id	symbol	avg_diff	p_val	_hprdClass	_expr	_geneLists
PKM	PKM	2.455	0	Enzyme: Phosphotransferase	BrainSpLMD|5315	OMIM|179050
SYT1	SYT1	3.022	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
CAMK2A	CAMK2A	2.718	0	Serine/threonine kinase	BrainSpLMD|815;Eurexp|euxassay_002921|diaphragm, dorsal root ganglion, head mesenchyme, heart, limb, mantle layer, marginal layer, tail, thymus primordium, tongue, ventricle, ventricular layer, vertebral axis muscle system;BrainSpMouseDev|12107	SFARI||Autism, 4 - Minimal evidence;OMIM|114078
ATP2B1	ATP2B1	2.423	0	ATPase	BrainSpLMD|490	OMIM|108731
HSP90AA1	HSP90AA1	2.630	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
HSP90AB1	HSP90AB1	2.643	0	Chaperone	BrainSpLMD|3326	OMIM|140572;COSMIC||NHL
SYP	SYP	2.927	0	Transport/cargo protein	BrainSpLMD|6855	OMIM|313475;HPO|6855|Intellectual disability, X-linked dominant inheritance
STMN2	STMN2	2.812	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
RAB3A	RAB3A	2.456	0	GTPase	BrainSpLMD|5864;BrainSpMouseDev|19102	OMIM|179490
TMEM59L	TMEM59L	2.680	0	Unclassified	BrainSpLMD|25789;Eurexp|euxassay_000050|nerve fibre layer, nervous system, telencephalon, trigeminal V	OMIM|617096
GAPDH	GAPDH	2.515	0	Enzyme: Dehydrogenase		OMIM|138400
ENO2	ENO2	2.439	0	Enzyme: Hydratase	BrainSpLMD|2026;Eurexp|euxassay_018457|dorsal root ganglion, facial VII, mantle layer, trigeminal V, vagus X, ventral grey horn	OMIM|131360
SERINC1	SERINC1	2.481	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
RTN4	RTN4	2.218	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
STMN1	STMN1	2.678	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
TUBA1B	TUBA1B	2.892	0	Structural protein	BrainSpLMD|10376	OMIM|602530
YWHAH	YWHAH	2.859	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
CHN1	CHN1	3.589	0	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
ARPP19	ARPP19	2.950	0	Unclassified	BrainSpLMD|10776	OMIM|605487
OLFM1	OLFM1	2.835	0	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
MAP1B	MAP1B	2.900	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
SNAP25	SNAP25	2.522	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
BEX1	BEX1	2.986	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
RTN3	RTN3	2.677	0	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
SARAF	SARAF	2.603	0	Integral membrane protein	BrainSpLMD|51669;Eurexp|euxassay_011510|dorsal root ganglion, incisor, mantle layer, molar, olfactory, pituitary, vagus X, ventral grey horn, vomeronasal organ	OMIM|614768
TUBB2A	TUBB2A	2.893	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
RTN1	RTN1	2.993	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
ATP1B1	ATP1B1	2.701	0	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
ALDOA	ALDOA	2.762	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
THY1	THY1	3.137	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
NRGN	NRGN	2.801	0	Unclassified	BrainSpLMD|4900;BrainSpMouseDev|40644	OMIM|602350
UCHL1	UCHL1	2.826	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
TSPAN7	TSPAN7	2.566	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
CALM3	CALM3	2.785	0	Calcium binding protein	BrainSpLMD|808	OMIM|114183;HPO|808|Ventricular tachycardia, Vertigo
VSNL1	VSNL1	2.621	0	Calcium binding protein	BrainSpLMD|7447	OMIM|600817
ATP1A1	ATP1A1	2.510	0	ATPase	BrainSpLMD|476;BrainSpMouseDev|11714	OMIM|182310;COSMIC||adrenal aldosterone producing adenoma
SERPINI1	SERPINI1	2.574	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
NGFRAP1	NGFRAP1	2.631	0			
SCG5	SCG5	2.703	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
YWHAG	YWHAG	2.436	0	Adapter molecule	BrainSpLMD|7532	OMIM|605356
CLSTN1	CLSTN1	2.628	0	Calcium binding protein	BrainSpLMD|22883;BrainSpMouseDev|41788	OMIM|611321
ENC1	ENC1	3.194	0	Structural protein	BrainSpLMD|8507;BrainSpMouseDev|13581	OMIM|605173
PRNP	PRNP	2.434	0	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
SEPW1	SEPW1	2.486	0			
CALM1	CALM1	2.979	0	Calcium binding protein	BrainSpLMD|801	OMIM|114180;HPO|801|Autosomal dominant inheritance, Cardiac arrest, Prolonged QT interval, Sudden death, Syncope, Ventricular tachycardia, Vertigo
NEFL	NEFL	2.645	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
PLD3	PLD3	2.366	0	Enzyme: Phospholipase	BrainSpLMD|23646	OMIM|615698
FAIM2	FAIM2	2.384	0	Unclassified	BrainSpLMD|23017	OMIM|604306
TMSB10	TMSB10	2.481	0	Cytoskeletal associated protein	BrainSpLMD|9168	OMIM|188399
PREPL	PREPL	2.184	0	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
CCK	CCK	2.872	2.3065E-306	Peptide hormone	BrainSpLMD|885;Eurexp|euxassay_018189|diencephalon, hypothalamus, mantle layer, midbrain, telencephalon;BrainSpMouseDev|12209	OMIM|118440
EIF4A2	EIF4A2	2.268	2.503E-306	Translation regulatory protein	BrainSpLMD|1974	OMIM|601102;COSMIC||NHL
PGM2L1	PGM2L1	2.360	8.0975E-305	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
STXBP1	STXBP1	2.383	1.3004E-304	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
IDS	IDS	2.389	1.321E-303	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
APP	APP	1.926	3.4517E-300	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
PSAP	PSAP	2.120	3.8313E-300	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
LINC00657	LINC00657	2.342	1.0257E-299			
NDRG4	NDRG4	2.475	1.3577E-296	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
ATP6AP2	ATP6AP2	2.240	1.5766E-291	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
CREG2	CREG2	2.390	4.3242E-289	Secreted polypeptide	BrainSpLMD|200407;Eurexp|euxassay_010986|mantle layer	
PGAM1	PGAM1	2.204	1.1005E-288	Enzyme: Mutase		OMIM|172250
SNCA	SNCA	2.347	7.2278E-287	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
TMSB4X	TMSB4X	2.162	3.6537E-285	Cytoskeletal associated protein		OMIM|300159
NDFIP1	NDFIP1	2.133	6.5909E-280	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
SEZ6L2	SEZ6L2	2.316	9.0407E-278	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
YWHAB	YWHAB	2.179	1.0545E-274	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
DNM1	DNM1	2.249	7.0996E-272	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
DYNLL1	DYNLL1	2.091	7.6588E-270	Motor protein	BrainSpLMD|8655	OMIM|601562
ATP6V0B	ATP6V0B	2.140	1.5577E-268	ATPase	BrainSpLMD|533;Eurexp|euxassay_004026|brain, cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|603717
PEBP1	PEBP1	2.148	2.7744E-266	Protease inhibitor	BrainSpLMD|5037	OMIM|604591
DPYSL2	DPYSL2	1.779	4.3252E-264	Cytoskeletal associated protein	BrainSpLMD|1808	OMIM|602463
ATP1A3	ATP1A3	2.262	1.365E-262	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
SCN3B	SCN3B	2.285	1.3424E-261	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
BEX2	BEX2	2.148	3.7217E-260	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
GDI1	GDI1	2.133	3.7217E-260	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
HMP19	HMP19	2.158	4.8424E-259			
SLC17A7	SLC17A7	2.380	8.6668E-258	Transport/cargo protein	BrainSpLMD|57030;BrainSpMouseDev|48802	OMIM|605208
LMO4	LMO4	2.258	2.8388E-257	Transcription regulatory protein	BrainSpLMD|8543;Eurexp|euxassay_004815|mantle layer, marginal layer, naris, submandibular gland primordium, vibrissa;BrainSpMouseDev|16681	OMIM|603129
CADM3	CADM3	2.043	1.4519E-255	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
SCN2A	SCN2A	2.179	1.7881E-249	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
RGS4	RGS4	2.074	6.4784E-246	GTPase activating protein	BrainSpLMD|5999;Eurexp|euxassay_011462|adrenal gland, aorta, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, marginal layer, neural retina, thoracic, thymus primordium, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|19499	OMIM|602516
ATP2A2	ATP2A2	2.070	7.136E-245	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
KLC1	KLC1	2.022	2.3312E-244	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
NSF	NSF	2.072	2.2945E-243	ATPase	BrainSpLMD|4905;Eurexp|euxassay_004886|brain, dorsal root ganglion, glossopharyngeal IX, spinal cord, trigeminal V, vagus X, vibrissa	OMIM|601633
NPTXR	NPTXR	2.302	2.3528E-243	Cell surface receptor	BrainSpLMD|23467	OMIM|609474
CKB	CKB	2.025	3.5877E-238	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
GAP43	GAP43	2.121	1.8656E-235	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
SLC22A17	SLC22A17	1.930	9.6024E-235	Transport/cargo protein	BrainSpLMD|51310	OMIM|611461
RAB6B	RAB6B	1.882	3.04E-231	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
CFL1	CFL1	1.958	4.7442E-231	Cytoskeletal associated protein	BrainSpLMD|1072	OMIM|601442
ATP6V1B2	ATP6V1B2	1.933	4.4078E-230	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
PTPRN	PTPRN	1.893	2.2695E-226	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
RHBDD2	RHBDD2	1.926	1.061E-223	Integral membrane protein	BrainSpLMD|57414	OMIM|615203
ATP2B2	ATP2B2	2.067	9.0047E-222	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
MTCH1	MTCH1	1.836	4.7398E-220	Unclassified	BrainSpLMD|23787;Eurexp|euxassay_007787|choroid invagination, choroid plexus, marginal layer, roof plate, thyroid	OMIM|610449
APLP1	APLP1	2.019	7.7108E-220	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
PPIA	PPIA	1.799	8.6313E-219	Enzyme: Isomerase	BrainSpLMD|5478	OMIM|123840
BASP1	BASP1	1.975	4.1548E-218	Transcription regulatory protein	BrainSpLMD|10409	OMIM|605940
PRKCB	PRKCB	2.056	4.3637E-218	Serine/threonine kinase	BrainSpLMD|5579;BrainSpMouseDev|18515	SFARI||Autism, 3 - Suggestive evidence;OMIM|176970;COSMIC||adult T-cell lymphoma-leukaemia
OCIAD1	OCIAD1	1.815	8.1556E-217	Unclassified	BrainSpLMD|54940	
TUBA1A	TUBA1A	1.897	9.817E-217	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
ATP6V1A	ATP6V1A	1.820	4.4228E-216	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
CLU	CLU	2.178	2.7185E-214	Complement protein	BrainSpLMD|1191;BrainSpMouseDev|12543	OMIM|185430
NAPB	NAPB	1.791	9.0352E-213	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
YWHAZ	YWHAZ	1.853	1.7479E-212	Adapter molecule	BrainSpLMD|7534	OMIM|601288
CAMK2B	CAMK2B	2.047	5.6391E-212	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
ATP5B	ATP5B	1.829	2.1996E-211			
PCSK1N	PCSK1N	1.897	3.2914E-211	Unclassified	BrainSpLMD|27344;Eurexp|euxassay_018174|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|300399
SULT4A1	SULT4A1	1.768	9.1899E-211	Enzyme: Sulphotransferase	BrainSpLMD|25830	OMIM|608359
SYT4	SYT4	1.856	3.9393E-209	Calcium binding protein	BrainSpLMD|6860	OMIM|600103
BEX4	BEX4	1.755	1.1015E-207	Adapter molecule	Eurexp|euxassay_006309|calyces, liver, lung, midgut, pancreas, rectum, stomach, submandibular gland primordium, urethra	OMIM|300692
SV2A	SV2A	1.867	3.1629E-207	Integral membrane protein	BrainSpLMD|9900	OMIM|185860
LY6H	LY6H	1.827	2.3588E-206	Integral membrane protein	BrainSpLMD|4062;Eurexp|euxassay_013816|dorsal root ganglion, facial VII, glossopharyngeal IX, lateral ventricle, mantle layer, marginal layer, neural retina, olfactory, pituitary, trigeminal V, ventral grey horn, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|23686	OMIM|603625
GABRA1	GABRA1	1.982	1.6475E-205	Extracellular ligand gated channel	BrainSpLMD|2554;Eurexp|euxassay_008310|mantle layer, palatal shelf, submandibular gland primordium;BrainSpMouseDev|14170	SFARI||Autism, 5 - Hypothesized but untested;OMIM|137160;HPO|2554|Absence seizures, Ataxia, Atonic seizures, Autosomal dominant inheritance, Cutaneous photosensitivity, EEG abnormality, Epileptic encephalopathy, Febrile seizures, Focal clonic seizures, Generalized myoclonic seizures, Global developmental delay, Hemiclonic seizures, Intellectual disability, Muscular hypotonia, Neurodevelopmental delay, Obtundation status, Pschomotor retardation, Status epilepticus, Tremor
CAP2	CAP2	1.954	1.1828E-204	Unclassified	BrainSpLMD|10486;Eurexp|euxassay_002560|diaphragm, head mesenchyme, marginal layer, tongue, vertebral axis muscle system	
TPI1	TPI1	1.781	1.8915E-203	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
SERINC3	SERINC3	1.776	4.5466E-203	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
GHITM	GHITM	1.640	1.2902E-200	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	
SYT11	SYT11	1.726	7.4581E-200	Calcium binding protein	BrainSpLMD|23208	OMIM|608741
SLC39A10	SLC39A10	2.012	3.2242E-199	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
ACTB	ACTB	1.681	5.005E-199	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
ITM2B	ITM2B	1.724	1.4927E-198	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
ACTG1	ACTG1	1.727	3.3023E-197	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
UQCRH	UQCRH	1.779	5.6178E-196	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
LDHA	LDHA	1.706	2.8418E-194	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
PRKAR1B	PRKAR1B	1.866	1.1931E-193	Serine/threonine kinase	Eurexp|euxassay_018636|cervical, cervico-thoracic, dorsal root ganglion, extrinsic, facial VII, glossopharyngeal IX, mantle layer, marginal layer, mesenchyme, midgut, naris, neural retina, olfactory, stomach, thoracic, tongue, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|176911;HPO|5575|Abnormal neuron morphology, Anxiety, Apathy, Bradykinesia, Diffuse cerebral atrophy, Falls, Frontotemporal dementia, Impaired visuospatial constructive cognition, Inappropriate behavior, Inertia, Language impairment, Memory impairment, Motor deterioration, Muscle stiffness, Parkinsonism, Postural instability, Short attention span, Short stepped shuffling gait
REEP5	REEP5	1.713	1.2285E-193	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
SLC12A5	SLC12A5	1.721	4.8122E-193	Membrane transport protein	BrainSpLMD|57468;Eurexp|euxassay_019691|mantle layer, ventral grey horn	SFARI||Autism, 3 - Suggestive evidence;OMIM|606726;HPO|57468|Abnormal pyramidal signs, Autosomal recessive inheritance, Cerebral atrophy, Delayed CNS myelination, Excessive salivation, Generalized tonic-clonic seizures with focal onset, Global developmental delay, Hemiclonic seizures, Inability to walk, Infantile onset, Intellectual disability, Postnatal microcephaly, Status epilepticus
SV2B	SV2B	2.011	4.7804E-192	Membrane transport protein	BrainSpLMD|9899;Eurexp|euxassay_011464|cortex, dorsal root ganglion, epidermis, glossopharyngeal IX, hindgut, mantle layer, marginal layer, midgut, neural retina, oesophagus, olfactory, rectum, stomach, thymus primordium, trigeminal V, ventricular layer, vestibulocochlear VIII, vomeronasal organ	OMIM|185861
VDAC1	VDAC1	1.617	5.6732E-192	Voltage gated channel	BrainSpLMD|7416	OMIM|604492
CPE	CPE	1.763	9.9352E-191	Carboxypeptidase	BrainSpLMD|1363	OMIM|114855
SPARCL1	SPARCL1	2.177	2.6044E-190	Secreted polypeptide	BrainSpLMD|8404	SFARI||Autism, 3 - Suggestive evidence;OMIM|606041
GABBR2	GABBR2	2.029	2.7763E-190	G protein coupled receptor	BrainSpLMD|9568;BrainSpMouseDev|88950	OMIM|607340
HINT1	HINT1	1.717	5.436E-189	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
PCMT1	PCMT1	1.671	1.4675E-188	Enzyme: Methyltransferase	BrainSpLMD|5110	OMIM|176851
APLP2	APLP2	1.690	1.2542E-187	Integral membrane protein	BrainSpLMD|334;Eurexp|euxassay_004667|axial muscle, fundus region, submandibular gland primordium, urethra, ventral grey horn, vibrissa	OMIM|104776
PJA2	PJA2	1.721	3.5947E-187	Ubiquitin proteasome system protein	BrainSpLMD|9867;Eurexp|euxassay_000283|dorsal root ganglion, glossopharyngeal IX, mantle layer, trigeminal V, ventral grey horn	
DYNC1H1	DYNC1H1	1.673	6.7393E-184	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
PGRMC1	PGRMC1	1.607	1.3123E-183	Cell surface receptor	BrainSpLMD|10857;Eurexp|euxassay_018260|brain, dorsal root ganglion, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vagus X	OMIM|300435
GNAS	GNAS	1.730	2.4242E-183	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
NEFM	NEFM	1.584	2.7056E-183	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
MDH1	MDH1	1.698	6.5305E-183	Enzyme: Dehydrogenase	BrainSpLMD|4190	OMIM|154200
SYNGR1	SYNGR1	1.596	7.7491E-183	Integral membrane protein	BrainSpLMD|9145	OMIM|603925
TAGLN3	TAGLN3	1.703	1.8901E-181	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
SKP1	SKP1	1.614	9.3789E-181	Ubiquitin proteasome system protein	BrainSpLMD|6500	OMIM|601434
GABRB2	GABRB2	2.086	1.5366E-180	Integral membrane protein	BrainSpLMD|2561;Eurexp|euxassay_014215|mantle layer;BrainSpMouseDev|14177	OMIM|600232
PPP3CB	PPP3CB	1.614	3.8023E-180	Serine/threonine phosphatase	BrainSpLMD|5532	OMIM|114106
TUBB	TUBB	1.655	8.0322E-180	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
CAMK2N1	CAMK2N1	1.882	2.7571E-179	Unclassified	BrainSpLMD|55450	OMIM|614986
KIF3A	KIF3A	1.592	5.6417E-179	Motor protein	BrainSpLMD|11127	OMIM|604683
PDP1	PDP1	1.603	3.8032E-178	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
KIF1A	KIF1A	1.698	7.1095E-178	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
CHGA	CHGA	1.518	3.0455E-176	Secreted polypeptide	BrainSpLMD|1113;Eurexp|euxassay_014829|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, pituitary, spinal cord, thoracic, trigeminal V, vestibulocochlear VIII	OMIM|118910
ATP6V0E2	ATP6V0E2	1.619	7.5209E-176	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
B4GAT1	B4GAT1	1.557	3.6863E-174	Enzyme: Glucosaminyltransferase	BrainSpLMD|11041;Eurexp|euxassay_006738|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII	OMIM|605517;HPO|11041|Abnormal aldolase level, Abnormal lactate dehydrogenase activity, Abnormal levels of creatine kinase in blood, Absent septum pellucidum, Agenesis of corpus callosum, Anencephaly, Anophthalmia, Aplasia/Hypoplasia involving the skeletal musculature, Areflexia, Autosomal recessive inheritance, Blindness, Cerebellar hypoplasia, Chorioretinal dysplasia, Congenital onset, Corneal opacity, Cortical dysplasia, Cryptorchidism, Dandy-Walker malformation, Elevated serum creatine phosphokinase, Glaucoma, Global developmental delay, Hydrocephalus, Hydronephrosis, Hypoplasia of penis, Hypoplasia of the brainstem, Hyporeflexia, Intellectual disability, Lissencephaly, Macrocephaly, Macrogyria, Metatarsus valgus, Micropenis, Microphthalmia, Muscle weakness, Muscular dystrophy, Muscular hypotonia, Occipital encephalocele, Opacification of the corneal stroma, Optic atrophy, Optic nerve dysplasia, Pachygyria, Polymicrogyria, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Seizures, Severe muscular hypotonia, Skeletal muscle atrophy, Spasticity, Specific learning disability, Type II lissencephaly
ARF1	ARF1	1.506	4.1182E-174	GTPase	BrainSpLMD|375	OMIM|103180
BRK1	BRK1	1.527	2.5947E-173	Unclassified	BrainSpLMD|55845	OMIM|611183
MEF2C	MEF2C	1.488	3.602E-173	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
TMEM130	TMEM130	1.536	7.849E-173	Unclassified	BrainSpLMD|222865;Eurexp|euxassay_012940|brain, dorsal root ganglion, facial VII, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	
SOD1	SOD1	1.643	2.3745E-171	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
CHGB	CHGB	1.519	8.0768E-171	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
STMN3	STMN3	1.548	1.0222E-170	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
TSPYL1	TSPYL1	1.695	1.4207E-169	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
SCAMP5	SCAMP5	1.646	3.3629E-169	Integral membrane protein	BrainSpLMD|192683	OMIM|613766
SNX10	SNX10	1.481	2.5195E-166	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
CDK5R1	CDK5R1	1.630	3.951E-165	Regulatory/other subunit	BrainSpLMD|8851;BrainSpMouseDev|12354	OMIM|603460
PRKAR1A	PRKAR1A	1.430	4.8442E-163	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
DKK3	DKK3	1.514	9.4332E-163	Ligand	BrainSpLMD|27122;Eurexp|euxassay_018106|aorta, axial skeleton, femur, humerus, mesenchyme, neural retina, rib, ventricular layer;BrainSpMouseDev|30269	OMIM|605416
SNCB	SNCB	1.590	6.0665E-162	Unclassified	BrainSpLMD|6620	OMIM|602569;HPO|6620|Autosomal dominant inheritance, Delusions, Dementia, Fluctuations in consciousness, Parkinsonism, Visual hallucinations
LDHB	LDHB	1.396	3.4482E-161	Enzyme: Dehydrogenase	BrainSpLMD|3945	OMIM|150100
ITM2C	ITM2C	1.500	5.214E-160	Integral membrane protein	BrainSpLMD|81618	OMIM|609554
CLSTN3	CLSTN3	1.584	1.5324E-159	Calcium binding protein	BrainSpLMD|9746	SFARI||Autism, 5 - Hypothesized but untested;OMIM|611324
MLLT11	MLLT11	1.493	2.9294E-159	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
DIRAS2	DIRAS2	1.555	1.2796E-158	GTPase	BrainSpLMD|54769	OMIM|607863
USP11	USP11	1.519	2.9718E-158	Ubiquitin proteasome system protein	BrainSpLMD|8237;Eurexp|euxassay_015355|brain, dorsal root ganglion, spinal cord	OMIM|300050
SYN1	SYN1	1.439	1.0687E-157	Transport/cargo protein	BrainSpLMD|6853;Eurexp|euxassay_015737|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, molar, neural retina, olfactory, spinal cord, stroma, thoracic, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|20725	SFARI||Autism, 4 - Minimal evidence;OMIM|313440;HPO|6853|Aggressive behavior, Autistic behavior, Focal seizures, Macrocephaly, Seizures, Specific learning disability, X-linked dominant inheritance, X-linked recessive inheritance
C14orf2	C14orf2	1.546	4.3113E-157			
HSPA8	HSPA8	1.522	3.0876E-156	Heat shock protein	BrainSpLMD|3312	OMIM|600816
MAPK1	MAPK1	1.511	9.5603E-156	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
PHYHIP	PHYHIP	1.683	1.7048E-155	Unclassified	BrainSpLMD|9796;Eurexp|euxassay_002108|axial skeleton, epidermis, mantle layer, marginal layer, naris, oesophagus, olfactory, ventral grey horn, vibrissa	OMIM|608511
ATP6AP1	ATP6AP1	1.420	5.5703E-155	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
TOLLIP	TOLLIP	1.362	7.5822E-155	Adapter molecule	BrainSpLMD|54472	OMIM|606277
ARL6IP5	ARL6IP5	1.408	1.0646E-154	Unclassified	BrainSpLMD|10550	OMIM|605709
TSC22D1	TSC22D1	1.538	3.6512E-154	Transcription regulatory protein	BrainSpLMD|8848;BrainSpMouseDev|21566	OMIM|607715
SUB1	SUB1	1.491	5.3021E-154	Transcription factor	BrainSpLMD|10923	OMIM|600503
NRN1	NRN1	1.412	2.5993E-153	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
SCOC	SCOC	1.382	9.9375E-153	Unclassified	BrainSpLMD|60592;Eurexp|euxassay_002885|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, thoracic, trigeminal V, vagus X	
GOT1	GOT1	1.380	1.1454E-152	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
SEC62	SEC62	1.526	2.3822E-151	Transport/cargo protein	BrainSpLMD|7095	OMIM|602173
SLC6A17	SLC6A17	1.423	3.5282E-151	Membrane transport protein	Eurexp|euxassay_019739|floorplate, mantle layer	OMIM|610299;HPO|388662|Aggressive behavior, Autosomal recessive inheritance, Blepharophimosis, Global developmental delay, Inability to walk, Intellectual disability, Intellectual disability, severe, Kinetic tremor, Long philtrum, Macrotia, Mandibular prognathia, Self-mutilation, Small hand, Waddling gait
ANXA6	ANXA6	1.301	2.4088E-148	Calcium binding protein	BrainSpLMD|309	OMIM|114070
GUCY1B3	GUCY1B3	1.322	2.2484E-147			
TOMM20	TOMM20	1.421	1.3372E-145	Membrane transport protein	BrainSpLMD|9804	SFARI||Autism, 5 - Hypothesized but untested;OMIM|601848
NDUFA4	NDUFA4	1.540	5.5269E-145	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
CRYM	CRYM	1.438	2.7277E-144	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
MOAP1	MOAP1	1.275	1.0446E-143	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
VPS35	VPS35	1.335	1.0955E-143	Transport/cargo protein	BrainSpLMD|55737	OMIM|601501
BSG	BSG	1.516	1.9681E-143	Cell surface receptor	BrainSpLMD|682	OMIM|109480
GNG3	GNG3	1.395	1.9153E-142	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
CYCS	CYCS	1.324	4.4759E-142	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
BNIP3	BNIP3	1.241	1.477E-140	Unclassified	BrainSpLMD|664;Eurexp|euxassay_004164|axial skeleton, clavicle, epithelium, mesenchyme, midgut, olfactory, stomach, ventricle	OMIM|603293
TMEM30A	TMEM30A	1.300	1.722E-140	Integral membrane protein	BrainSpLMD|55754	OMIM|611028
CYFIP2	CYFIP2	1.352	2.8093E-140	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
SNX3	SNX3	1.272	3.005E-140	Transport/cargo protein	BrainSpLMD|8724;Eurexp|euxassay_015289|nucleus pulposus, thymus primordium, ventricular layer	OMIM|605930
SYN2	SYN2	1.794	3.4212E-140	Unclassified	BrainSpLMD|6854;Eurexp|euxassay_011679|facial VII, glossopharyngeal IX, lens, mantle layer, marginal layer, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII	SFARI||Autism, No category;OMIM|600755
ATP6V0D1	ATP6V0D1	1.339	3.9774E-140	ATPase	BrainSpLMD|9114;Eurexp|euxassay_000642|dorsal root ganglion, facial VII, inferior, superior, trigeminal V, vagus X	OMIM|607028
RPL15	RPL15	1.424	4.7658E-140	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
COX7C	COX7C	1.472	7.0925E-140	Regulatory/other subunit		OMIM|603774
SLC9A6	SLC9A6	1.331	1.0873E-139	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
GABARAPL2	GABARAPL2	1.288	2.3188E-139	Transport/cargo protein	BrainSpLMD|11345	OMIM|607452
GDA	GDA	1.426	3.2795E-139	Enzyme: Deaminase	BrainSpLMD|9615;Eurexp|euxassay_011767|cervical, cervico-thoracic, dorsal root ganglion, medulla, thoracic;BrainSpMouseDev|14320	SFARI||Autism, No category;OMIM|139260
GPX4	GPX4	1.314	3.6365E-139	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
TMA7	TMA7	1.378	2.4381E-138	Transcription factor		OMIM|615808
CAMKV	CAMKV	1.312	2.9903E-138	Unclassified	BrainSpLMD|79012;Eurexp|euxassay_007008|diencephalon, hindbrain, mantle layer, marginal layer, midbrain, phalanx, spinal cord	OMIM|614993
NAP1L1	NAP1L1	1.366	5.5117E-138	Transcription regulatory protein	BrainSpLMD|4673;Eurexp|euxassay_005511|nucleus pulposus	OMIM|164060
ACTR2	ACTR2	1.287	4.6576E-137	Cytoskeletal protein	BrainSpLMD|10097	OMIM|604221
TMEM14A	TMEM14A	1.277	6.1595E-137	Integral membrane protein	BrainSpLMD|28978	OMIM|616870
ST8SIA3	ST8SIA3	1.310	2.7884E-136	Enzyme: Sialyltransferase	BrainSpLMD|51046	OMIM|609478
EIF1	EIF1	1.303	6.6002E-136	Translation regulatory protein	BrainSpLMD|10209	
NCDN	NCDN	1.305	1.2394E-135	Unclassified	BrainSpLMD|23154;Eurexp|euxassay_001888|dorsal root ganglion, glossopharyngeal IX, marginal layer, trigeminal V, ventral grey horn	OMIM|608458
CTSB	CTSB	1.326	1.4548E-135	Cysteine protease	BrainSpLMD|1508	OMIM|116810;HPO|1508|Erythema
CX3CL1	CX3CL1	1.316	7.7963E-135	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
TM2D3	TM2D3	1.261	1.824E-134	Integral membrane protein	BrainSpLMD|80213	OMIM|610014
TUBA4A	TUBA4A	1.294	2.0245E-134	Cytoskeletal protein	BrainSpLMD|7277	OMIM|191110;HPO|7277|Autosomal dominant inheritance
PLPPR4	PLPPR4	1.523	6.0224E-134		BrainSpLMD|9890	OMIM|607813
FTH1	FTH1	1.508	1.0464E-133	Storage protein	BrainSpLMD|2495	OMIM|134770;HPO|2495|Autosomal dominant inheritance, Increased serum ferritin
LYNX1	LYNX1	1.209	1.8153E-133	Unclassified	BrainSpLMD|66004;Eurexp|euxassay_017873|mantle layer, medulla, ventral grey horn, ventricular layer	OMIM|606110
GRINA	GRINA	1.269	1.9021E-133	Integral membrane protein	BrainSpLMD|2907	OMIM|138251
PNMA2	PNMA2	1.354	2.3081E-133	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
GRIN1	GRIN1	1.641	1.2076E-132	Ion channel	BrainSpLMD|2902;Eurexp|euxassay_018163|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V;BrainSpMouseDev|14586	SFARI||Autism, 3 - Suggestive evidence;OMIM|138249;HPO|2902|Autosomal dominant inheritance, Intellectual disability
COX4I1	COX4I1	1.332	1.8668E-132	Enzyme: Oxidoreductase	BrainSpLMD|1327	OMIM|123864
RABAC1	RABAC1	1.287	1.8838E-132	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
FAM127A	FAM127A	1.284	2.4914E-132			
C9orf16	C9orf16	1.330	2.6314E-132	Unclassified	BrainSpLMD|79095;Eurexp|euxassay_000206|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, trigeminal V, vagus X, ventral grey horn	
MORF4L1	MORF4L1	1.258	1.1473E-131	Transcription regulatory protein	BrainSpLMD|10933	OMIM|607303
RHEB	RHEB	1.218	1.3159E-131	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
G3BP2	G3BP2	1.275	2.5387E-131	Unclassified	BrainSpLMD|9908	
CCDC85B	CCDC85B	1.317	3.0345E-131	Unclassified	BrainSpLMD|11007	OMIM|605360
ATP6V1F	ATP6V1F	1.254	8.837E-131	ATPase	BrainSpLMD|9296;Eurexp|euxassay_005209|dorsal root ganglion, glossopharyngeal IX, mantle layer, olfactory lobe, spinal cord, trigeminal V, vagus X	OMIM|607160
PPP2R1A	PPP2R1A	1.276	1.1502E-129	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
ACOT7	ACOT7	1.254	1.2636E-129	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
ATPIF1	ATPIF1	1.344	1.821E-129			
ATP6V1E1	ATP6V1E1	1.305	1.821E-129	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
ATL1	ATL1	1.331	3.1102E-129	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
HSPH1	HSPH1	1.498	1.3836E-128	Heat shock protein;Chaperone	BrainSpLMD|10808	OMIM|610703
WSB2	WSB2	1.182	1.8917E-127	Ubiquitin proteasome system protein	BrainSpLMD|55884;Eurexp|euxassay_015363|brain, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vestibulocochlear VIII	
ARHGDIG	ARHGDIG	1.172	2.728E-127	Unclassified	BrainSpLMD|398;Eurexp|euxassay_005682|basal plate, dorsal root ganglion, facial VII, floorplate, glossopharyngeal IX, mantle layer, molar, olfactory, trigeminal V, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII	OMIM|602844
RAC1	RAC1	1.243	3.5986E-127	GTPase	BrainSpLMD|5879;BrainSpMouseDev|19116	OMIM|602048;COSMIC||melanoma, carcinoma
BSN	BSN	1.278	7.143E-127	Transcription factor	BrainSpLMD|8927;Eurexp|euxassay_008029|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|604020
LONRF2	LONRF2	1.296	1.668E-126	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	
NPTN	NPTN	1.411	2.0003E-126	Immunoglobulin	BrainSpLMD|27020	OMIM|612820
SLC25A3	SLC25A3	1.202	3.0996E-126	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
SRP14	SRP14	1.328	4.9529E-126	RNA binding protein	BrainSpLMD|6727;Eurexp|euxassay_001753|dorsal root ganglion, glossopharyngeal IX, thymus primordium, trigeminal V, vestibulocochlear VIII	OMIM|600708
TUBB4A	TUBB4A	1.269	6.2599E-125	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
SIRPA	SIRPA	1.246	7.039E-125	Cell surface receptor	BrainSpLMD|140885;Eurexp|euxassay_013621|embryo, floor plate, floorplate, mantle layer, marginal layer	OMIM|602461;COSMIC||HNSCC, colorectal cancer, Lung SCC
GABBR1	GABBR1	1.317	1.0639E-124	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
ATP6V1G1	ATP6V1G1	1.089	1.7109E-124	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
SYT5	SYT5	1.148	4.7375E-124	Integral membrane protein	BrainSpLMD|6861;Eurexp|euxassay_018069|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|600782
FXYD7	FXYD7	1.171	4.8294E-124	Regulatory/other subunit	BrainSpLMD|53822	OMIM|606684
CRMP1	CRMP1	1.204	5.784E-124	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
AKAP11	AKAP11	1.195	1.0026E-123	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
SLC8A2	SLC8A2	1.312	1.9392E-123	Membrane transport protein	Eurexp|euxassay_019728|mantle layer	OMIM|601901
PINK1	PINK1	1.167	1.9996E-123	Serine/threonine kinase	BrainSpLMD|65018;Eurexp|euxassay_018858|dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, neural retina, olfactory, testis, trigeminal V	OMIM|608309;HPO|65018|Anxiety, Autosomal recessive inheritance, Bradykinesia, Dementia, Depressivity, Dystonia, Hyperreflexia, Infantile onset, Parkinsonism, Postural instability, Resting tremor, Rigidity, Slow progression, Urinary urgency
TMX4	TMX4	1.126	2.2824E-123	Unclassified	BrainSpLMD|56255	OMIM|616766
RNF11	RNF11	1.256	4.9686E-123	Ubiquitin proteasome system protein	BrainSpLMD|26994	OMIM|612598
RAN	RAN	1.181	7.5285E-123	GTPase	BrainSpLMD|5901	OMIM|601179
KIF5A	KIF5A	1.153	1.501E-122	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
FBXL16	FBXL16	1.062	1.9439E-122	Ubiquitin proteasome system protein	BrainSpLMD|146330	OMIM|609082
NELL2	NELL2	1.715	7.1036E-122	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
ATP6V0A1	ATP6V0A1	1.285	1.8171E-121	Ion channel	BrainSpLMD|535	OMIM|192130
ATP9A	ATP9A	1.297	3.2677E-121	ATPase		OMIM|609126
CLTC	CLTC	1.274	4.2071E-121	Structural protein	BrainSpLMD|1213	OMIM|118955;COSMIC||ALCL, renal
KIF3C	KIF3C	1.185	2.3051E-120	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
CMAS	CMAS	1.120	2.715E-120	Enzyme: Ligase	BrainSpLMD|55907;Eurexp|euxassay_014837|brain, cervical, cervico-thoracic, dorsal root ganglion, lobe, rectum, spinal cord, thoracic	OMIM|603316
TUBB4B	TUBB4B	1.207	2.9422E-120	Structural protein	BrainSpLMD|10383	OMIM|602660
PACSIN1	PACSIN1	1.156	1.1599E-119	Adapter molecule	BrainSpLMD|29993;Eurexp|euxassay_007123|adenohypophysis, brain, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, respiratory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|606512
FRRS1L	FRRS1L	1.361	1.1632E-119	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
UQCRHL	UQCRHL	1.081	4.0873E-119			
STX1A	STX1A	1.249	6.4524E-119	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
KIFAP3	KIFAP3	1.237	6.9321E-119	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
KCNAB2	KCNAB2	1.073	8.0403E-119	Voltage gated channel	BrainSpLMD|8514;Eurexp|euxassay_002988|dorsal root ganglion, facial VII, glossopharyngeal IX, nasal capsule, olfactory, pons, thymus primordium, trigeminal V, ventral grey horn	OMIM|601142;HPO|8514|Absent speech, Agenesis of corpus callosum, Autism, Brachycephaly, Brachydactyly, Camptodactyly of finger, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Constipation, Deeply set eye, Delayed cranial suture closure, Depressed nasal bridge, Depressed nasal ridge, 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, 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
GABRG2	GABRG2	1.357	1.6812E-118	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
CLIP3	CLIP3	1.154	1.7795E-118	Cytoskeletal associated protein	BrainSpLMD|25999	OMIM|607382
NUAK1	NUAK1	1.319	9.1847E-118	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
ENO1	ENO1	1.251	1.1752E-117	Enzyme: Hydratase	BrainSpLMD|2023	OMIM|172430
CA11	CA11	1.257	2.3865E-117	Enzyme: Carbonic anhydrase	BrainSpLMD|770;Eurexp|euxassay_018973|dorsal root ganglion, facial VII, mantle layer, marginal layer, trigeminal V	OMIM|604644
KIAA1549L	KIAA1549L	1.372	8.3095E-117	Unclassified	BrainSpLMD|25758;Eurexp|euxassay_013276|facial VII, mantle layer, marginal layer, ventral grey horn	OMIM|612297
RUNDC3A	RUNDC3A	1.164	1.2373E-116	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
NRXN2	NRXN2	1.263	3.717E-116	Cell surface receptor	BrainSpLMD|9379	SFARI||Autism, 4 - Minimal evidence;OMIM|600566
LRPAP1	LRPAP1	1.093	1.2784E-115	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
PRKACB	PRKACB	1.197	5.6924E-115	Serine/threonine kinase	BrainSpLMD|5567	OMIM|176892
NCKAP1	NCKAP1	1.106	1.2949E-114	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
LY6E	LY6E	1.186	1.5522E-114	Unclassified	BrainSpLMD|4061;Eurexp|euxassay_010719|adrenal gland, liver, marginal layer, olfactory, thymus primordium, vertebral axis muscle system	OMIM|601384
TSPAN13	TSPAN13	1.111	2.063E-114	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
MAP1LC3A	MAP1LC3A	1.241	2.945E-114	Cytoskeletal associated protein	BrainSpLMD|84557;Eurexp|euxassay_011094|adrenal gland, dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X, ventral grey horn	OMIM|601242
ATP6V1C1	ATP6V1C1	1.089	6.0398E-114	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
ZBTB18	ZBTB18	1.245	1.5865E-113	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
SLC25A4	SLC25A4	1.040	2.0623E-113	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
AP1S1	AP1S1	1.107	2.1369E-113	Transport/cargo protein	BrainSpLMD|1174	OMIM|603531;HPO|1174|Abnormality of the intestine, Autosomal recessive inheritance, Cholestasis, Cirrhosis, Congenital onset, Decreased serum ceruloplasmin, Diarrhea, Erythema, Generalized hypotonia, Global developmental delay, Growth delay, Hearing impairment, Hepatic fibrosis, High forehead, Hyperkeratosis, Hypocupremia, Ichthyosis, Intellectual disability, Intrahepatic cholestasis, Peripheral neuropathy, Upslanted palpebral fissure
HSP90AB3P	HSP90AB3P	1.076	2.1816E-113			
HPCA	HPCA	1.183	3.3511E-113	Calcium binding protein	BrainSpLMD|3208;Eurexp|euxassay_002625|dorsal root ganglion, glossopharyngeal IX, mantle layer, marginal layer, trigeminal V	OMIM|142622;HPO|3208|Autosomal recessive inheritance, Blepharospasm, Dysarthria, Dysphagia, Juvenile onset, Slow progression, Torsion dystonia, Torticollis, Tremor
YWHAE	YWHAE	1.192	4.8765E-113	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
CDC42	CDC42	1.110	5.0221E-112	GTPase	BrainSpLMD|998;BrainSpMouseDev|12325	OMIM|116952
C1QTNF4	C1QTNF4	1.112	5.3758E-112	Unclassified	BrainSpLMD|114900	OMIM|614911
GUK1	GUK1	1.131	1.7314E-111	Enzyme: Phosphotransferase	BrainSpLMD|2987	OMIM|139270
UQCR10	UQCR10	1.199	3.4609E-111	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
SPOCK2	SPOCK2	1.194	7.771E-111	Extracellular matrix protein	BrainSpLMD|9806	OMIM|607988
SLC30A3	SLC30A3	1.090	1.8582E-110	Membrane transport protein	BrainSpLMD|7781;Eurexp|euxassay_019721|mantle layer, metanephros, ventricular layer	SFARI||Autism, 5 - Hypothesized but untested;OMIM|602878
SVOP	SVOP	1.102	4.8406E-110	Transport/cargo protein	Eurexp|euxassay_012084|dorsal root ganglion, facial VII, femur, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, pelvic girdle, rib, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611699
NUDT3	NUDT3	1.089	5.3908E-110	Enzyme: Hydrolase	BrainSpLMD|11165	OMIM|609228
GNB1	GNB1	1.051	1.275E-109	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
MAST3	MAST3	1.166	1.2988E-109	Serine/threonine kinase		OMIM|612258
EIF1B	EIF1B	1.027	1.381E-109	Translation regulatory protein	BrainSpLMD|10289;Eurexp|euxassay_011475|mantle layer, ventricular layer	
SCG2	SCG2	1.304	4.7352E-109	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
SLIT1	SLIT1	1.288	1.2533E-108	Ligand	BrainSpLMD|6585;BrainSpMouseDev|20324	OMIM|603742
HTR2A	HTR2A	1.006	2.5715E-108	G protein coupled receptor	BrainSpLMD|3356;BrainSpMouseDev|15333	SFARI||Autism, 5 - Hypothesized but untested;OMIM|182135
WASF1	WASF1	1.285	6.2457E-108	Adapter molecule	BrainSpLMD|8936;Eurexp|euxassay_004192|brain, dorsal root ganglion, glossopharyngeal IX, incisor, molar, spinal cord, trigeminal V, vagus X	OMIM|605035
RCN2	RCN2	1.034	1.5008E-107	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
GRIN2B	GRIN2B	1.536	3.5528E-106	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
ADCY1	ADCY1	1.260	3.6584E-106	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
HPRT1	HPRT1	1.039	4.0836E-106	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
BEX5	BEX5	1.097	4.1155E-106	Unclassified		OMIM|300693
NPTX1	NPTX1	1.148	6.3156E-106	Transport/cargo protein	BrainSpLMD|4884;Eurexp|euxassay_009619|dorsal root ganglion, mantle layer, molar, trigeminal V, ventral grey horn	OMIM|602367
UBE2V2	UBE2V2	1.010	7.4419E-106	Ubiquitin proteasome system protein	BrainSpLMD|7336;Eurexp|euxassay_007283|embryo	OMIM|603001
FKBP8	FKBP8	1.118	1.0017E-105	Adapter molecule	BrainSpLMD|23770	OMIM|604840
PPP3CA	PPP3CA	1.235	1.6891E-105	Serine/threonine phosphatase	BrainSpLMD|5530;Eurexp|euxassay_002802|dorsal root ganglion, glossopharyngeal IX, trigeminal V;BrainSpMouseDev|18818	OMIM|114105
DDX24	DDX24	1.147	5.7545E-105	Transport/cargo protein	BrainSpLMD|57062	OMIM|606181
AP2S1	AP2S1	1.056	1.4591E-104	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
NAP1L2	NAP1L2	1.046	1.9286E-104	Cell cycle control protein	BrainSpLMD|4674;Eurexp|euxassay_009377|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|300026
NCEH1	NCEH1	1.038	3.34E-104	Unclassified	BrainSpLMD|57552;Eurexp|euxassay_005981|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, incisor, midbrain, molar, retina, spinal cord, telencephalon, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|613234
LMBRD2	LMBRD2	1.075	3.6823E-104	Unclassified	Eurexp|euxassay_011394|Meckel's cartilage, facial VII, femur, glossopharyngeal IX, phalanx, tarsus, trigeminal V, vagus X	
CISD1	CISD1	1.035	9.4069E-104	Unclassified	BrainSpLMD|55847;Eurexp|euxassay_003163|chondrocranium, dorsal root ganglion, facial VII, glossopharyngeal IX, lobe, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|611932
CYP46A1	CYP46A1	1.062	9.7186E-104	Enzyme: Hydroxylase	BrainSpLMD|10858	OMIM|604087
RAB3C	RAB3C	1.396	2.9437E-103	GTPase	BrainSpLMD|115827;Eurexp|euxassay_009433|brain, dorsal root ganglion, olfactory, spinal cord	OMIM|612829
BAIAP2	BAIAP2	1.070	3.2034E-103	Adapter molecule	BrainSpLMD|10458;Eurexp|euxassay_002713|marginal layer	SFARI||Autism, 5 - Hypothesized but untested;OMIM|605475
ADGRB2	ADGRB2	1.076	2.011E-101	Integral membrane protein	BrainSpLMD|576	OMIM|602683
ELAVL4	ELAVL4	1.102	9.0188E-101	RNA binding protein	BrainSpLMD|1996	OMIM|168360
BCAP29	BCAP29	1.031	9.5495E-101	Integral membrane protein	BrainSpLMD|55973;Eurexp|euxassay_000840|dorsal root ganglion, lobe, submandibular gland primordium, thymus primordium, vagus X, ventricular layer, vibrissa	
TMEM160	TMEM160	1.021	2.6392E-100	Unclassified	BrainSpLMD|54958	
CHL1	CHL1	1.260	8.3516E-100	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
SNCG	SNCG	1.052	8.366E-100	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
MLF2	MLF2	1.005	8.9481E-99	Unclassified	BrainSpLMD|8079	OMIM|601401
CEND1	CEND1	1.033	1.38774E-98	Integral membrane protein	BrainSpLMD|51286;Eurexp|euxassay_015477|cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, mantle layer, marginal layer, midbrain, neural retina, olfactory, spinal cord, stroma, thoracic, trigeminal V, urethra, vagus X, ventral grey horn, vestibulocochlear VIII	OMIM|608213
HSP90B1	HSP90B1	1.059	1.88804E-98	Heat shock protein	BrainSpLMD|7184;Eurexp|euxassay_000099|body-wall mesenchyme, dermis, epidermis, nucleus pulposus	OMIM|191175
SCG3	SCG3	1.115	3.33863E-98	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
NDFIP2	NDFIP2	1.129	3.6142E-98	Transport/cargo protein	BrainSpLMD|54602;Eurexp|euxassay_007122|bladder, brain, dorsal root ganglion, epithelium, facial VII, glossopharyngeal IX, hindgut, midgut, neural retina, olfactory, pancreas, rectum, respiratory, spinal cord, stroma, submandibular gland primordium, trigeminal V, urethra, vagus X, vestibulocochlear VIII	OMIM|610041
MORF4L2	MORF4L2	1.056	5.2521E-98	Transcription regulatory protein	BrainSpLMD|9643;Eurexp|euxassay_007035|embryo	OMIM|300409
SERF2	SERF2	1.050	7.83967E-98	RNA binding protein	BrainSpLMD|10169;Eurexp|euxassay_007238|cranium	OMIM|605054
USP22	USP22	1.053	1.45891E-97	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
UBB	UBB	1.099	1.22048E-96	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
PAK1	PAK1	1.147	2.9404E-96	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
EPHB6	EPHB6	1.032	5.50982E-96	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
TBCA	TBCA	1.025	2.02502E-95	Chaperone	BrainSpLMD|6902;Eurexp|euxassay_009814|mantle layer, ventricular layer	OMIM|610058
RP11-270C12.3	RP11-270C12.3	1.061	1.1617E-94			
GRIN2A	GRIN2A	1.520	4.84795E-94	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
KCNK1	KCNK1	1.080	6.65506E-94	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
MAP1A	MAP1A	1.015	1.45794E-93	Cytoskeletal associated protein	BrainSpLMD|4130	OMIM|600178
NECAB1	NECAB1	1.282	2.8935E-93	Calcium binding protein	BrainSpLMD|64168;Eurexp|euxassay_005971|embryo	
KIF5C	KIF5C	1.176	5.64169E-93	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
PTMS	PTMS	1.003	9.21279E-93	DNA binding protein	BrainSpLMD|5763	OMIM|168440
FAM49A	FAM49A	1.152	2.37209E-91	Unclassified	BrainSpLMD|81553;Eurexp|euxassay_007357|mantle layer	
DSTN	DSTN	1.069	7.20442E-91	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
NUCKS1	NUCKS1	1.074	1.06402E-90	DNA binding protein	BrainSpLMD|64710	OMIM|611912
SCN8A	SCN8A	1.173	6.39986E-90	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
MGST3	MGST3	1.005	6.46996E-90	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
FBXW7	FBXW7	1.291	1.25522E-89	Ubiquitin proteasome system protein	BrainSpLMD|55294;BrainSpMouseDev|30242	OMIM|606278;COSMIC||colorectal, endometrial, T-ALL
STMN4	STMN4	1.018	1.59933E-88	Unclassified	BrainSpLMD|81551	
ATP5E	ATP5E	1.063	1.15116E-87			
COX5B	COX5B	1.002	5.29009E-87	Enzyme: Oxidoreductase	BrainSpLMD|1329;Eurexp|euxassay_005933|embryo	OMIM|123866
PCP4	PCP4	1.143	5.38367E-87	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
KCNB1	KCNB1	1.038	1.01587E-86	Voltage gated channel	BrainSpLMD|3745	SFARI||Autism, No category;OMIM|600397;HPO|3745|Autosomal dominant inheritance, Epileptic encephalopathy, Generalized hypotonia, Global developmental delay, Hypsarrhythmia, Infantile onset, Seizures
CELF4	CELF4	1.396	2.72411E-86	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
GAS7	GAS7	1.173	6.12424E-86	Unclassified	BrainSpLMD|8522;Eurexp|euxassay_001801|mantle layer, marginal layer	OMIM|603127;COSMIC||AML*
KIAA1107	KIAA1107	1.034	1.12641E-85	Unclassified		
SEPT7	SEPT7	1.021	4.97344E-85	Cell cycle control protein	BrainSpLMD|989	OMIM|603151
CCNI	CCNI	1.043	1.23695E-84	Cell cycle control protein	BrainSpLMD|10983	
DCLK1	DCLK1	1.401	2.13612E-80	Serine/threonine kinase	BrainSpLMD|9201;Eurexp|euxassay_018536|floor plate, floorplate, mantle layer, ventral grey horn, ventricular layer	OMIM|604742
PI4KA	PI4KA	1.043	3.74896E-80	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
DYNC1I1	DYNC1I1	1.167	9.43478E-79	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
CDKL5	CDKL5	1.018	1.3317E-78	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
LINGO1	LINGO1	1.099	7.18234E-77	Unclassified	BrainSpLMD|84894	OMIM|609791
SH3GL2	SH3GL2	1.142	1.80864E-73	Unclassified	BrainSpLMD|6456	OMIM|604465
CELF5	CELF5	1.027	1.06898E-72	RNA binding protein	BrainSpLMD|60680	OMIM|612680
PAK3	PAK3	1.238	8.28455E-72	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
GABRB3	GABRB3	1.165	8.54283E-63	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
WBSCR17	WBSCR17	1.080	6.87186E-46