id	symbol	avg_diff	p_val	_hprdClass	_expr	_geneLists
ATP1A2	ATP1A2	2.349	0	ATPase	BrainSpLMD|477;Eurexp|euxassay_001505|brain, cervical, cervico-thoracic, cochlea, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, hindlimb, mesenchyme, naris, neural retina, spinal cord, stroma, thoracic, tongue, trigeminal V, turbinate bones, vagus X, vertebral axis muscle system, vestibulocochlear VIII;BrainSpMouseDev|62830	OMIM|182340;HPO|477|Abnormality of movement, Aphasia, Apraxia, Ataxia, Autosomal dominant inheritance, Blurred vision, Choreoathetosis, Coma, Confusion, Diplopia, Drowsiness, Dysarthria, Dysphasia, Dystonia, Episodic ataxia, Episodic hemiplegia, Episodic quadriplegia, Fever, Generalized tonic-clonic seizures, Hemiparesis, Hemiplegia, Hemiplegia/hemiparesis, Heterogeneous, Incomplete penetrance, Intellectual disability, Mental deterioration, Migraine with aura, Nystagmus, Seizures, Transient unilateral blurring of vision, Vertigo
PREX2	PREX2	2.402	0	Guanine nucleotide exchange factor	BrainSpLMD|80243	OMIM|612139;COSMIC||melanoma, pancreatic ductal adenocarcinoma
CTNNA2	CTNNA2	2.617	0	Cytoskeletal protein	BrainSpLMD|1496;Eurexp|euxassay_011120|anterior, anterior abdominal wall, brain, cervical, cervico-thoracic, dermal component, dermis, dorsal root ganglion, facial VII, facial bones primordia, glossopharyngeal IX, inner ear, left lung, lip, medulla, midgut, molar, neural retina, oesophagus, olfactory, primitive seminiferous tubules, rectum, right lung, spinal cord, stomach, thoracic, thymus primordium, thyroid, tongue, trigeminal V, vagus X, valve, vestibulocochlear VIII, vomeronasal organ	OMIM|114025;COSMIC||gastric cancer
RORA	RORA	2.727	0	Nuclear receptor	BrainSpLMD|6095;Eurexp|euxassay_018175|anterior, dorsal grey horn, external, mantle layer, medulla, thymus primordium, vibrissa;BrainSpMouseDev|19646	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600825
SLC1A3	SLC1A3	4.199	0	Transport/cargo protein	BrainSpLMD|6507;Eurexp|euxassay_001899|mantle layer, thymus primordium, tongue, ventral grey horn, ventricular layer;BrainSpMouseDev|20274	OMIM|600111;HPO|6507|Autosomal dominant inheritance, Cerebellar hypoplasia, Diplopia, Dysarthria, Episodic ataxia, Generalized hypotonia, Hemiparesis, Hemiplegia, Migraine, Motor delay, Nausea, Phonophobia, Photophobia, Seizures, Slurred speech, Truncal ataxia, Vertigo, Vomiting
LRRC16A	LRRC16A	2.535	0			
SLC4A4	SLC4A4	2.970	0	Membrane transport protein	BrainSpLMD|8671;Eurexp|euxassay_019682|floor plate, floorplate, ventricular layer	OMIM|603345;HPO|8671|Autosomal recessive inheritance, Band keratopathy, Bicarbonate-wasting renal tubular acidosis, Cataract, Glaucoma, Growth delay, Hyperchloremic acidosis, Increased red cell osmotic resistance, Intellectual disability, Proximal renal tubular acidosis
COL5A3	COL5A3	2.461	0	Extracellular matrix protein	BrainSpLMD|50509	OMIM|120216
GLIS3	GLIS3	2.114	0	Unclassified	BrainSpLMD|169792;Eurexp|euxassay_016279|floorplate, lip, roof plate, ventricular layer, vibrissa;BrainSpMouseDev|86346	OMIM|610192;HPO|169792|Autosomal recessive inheritance, Cholestasis, Congenital glaucoma, Congenital hypothyroidism, Depressed nasal bridge, Diabetes mellitus, Epicanthus, Global developmental delay, Hepatic fibrosis, Hepatomegaly, Intrauterine growth retardation, Long philtrum, Low-set ears, Phenotypic variability, Polycystic kidney dysplasia, Portal hypertension, Renal cyst, Thin upper lip vermilion
SLC1A2	SLC1A2	4.937	0	Membrane transport protein	BrainSpLMD|6506;Eurexp|euxassay_009471|brain, spinal cord;BrainSpMouseDev|20273	SFARI||Autism, No category;OMIM|600300;HPO|6506|Autosomal dominant inheritance, Cerebral atrophy, Epileptic encephalopathy, Flexion contracture, Generalized hypotonia, Global developmental delay, Hypoplasia of the corpus callosum, Intellectual disability, profound, Kyphoscoliosis, Neonatal onset, Seizures
PARD3B	PARD3B	2.171	0	Unclassified	BrainSpLMD|117583;Eurexp|euxassay_009412|olfactory, ventricular layer, vomeronasal organ	SFARI||Autism, 3 - Suggestive evidence
C1orf61	C1orf61	2.155	0	Transcription regulatory protein	BrainSpLMD|10485	
DTNA	DTNA	2.615	0	Unclassified	BrainSpLMD|1837;Eurexp|euxassay_010455|dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, stomach, trigeminal V, ventral grey horn, ventricular layer, vestibular component, vestibulocochlear VIII	OMIM|601239;HPO|1837|Atrial fibrillation, Autosomal dominant inheritance, Congestive heart failure, Hypoplastic left heart, Left ventricular hypertrophy, Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Patent ductus arteriosus, Sudden cardiac death, Ventricular arrhythmia, Ventricular septal defect
NHSL1	NHSL1	2.277	0	Unclassified		
GLUL	GLUL	2.272	0	Enzyme: Aminotransferase	BrainSpLMD|2752;BrainSpMouseDev|14421	OMIM|138290;HPO|2752|Apnea, Autosomal recessive inheritance, Bradycardia, Brain atrophy, CNS hypomyelination, Depressed nasal bridge, Encephalopathy, Generalized hypotonia, Hyperammonemia, Hyperreflexia, Hypoplasia of the corpus callosum, Low-set ears, Periventricular cysts, Respiratory insufficiency, Seizures, Severe global developmental delay, Skin rash, Subependymal cysts, Ventriculomegaly, Wide nasal bridge
BMPR1B	BMPR1B	2.031	0	Receptor serine/threonine kinase	BrainSpLMD|658;BrainSpMouseDev|11953	OMIM|603248;HPO|658|2-3 toe syndactyly, Abnormality of epiphysis morphology, Abnormality of the fingernails, Abnormality of the hip bone, Abnormality of the radius, Abnormality of the thumb, Abnormality of the ulna, Abnormality of tibia morphology, Aplasia of the middle phalanges of the toes, Aplasia of the proximal phalanges of the hand, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the 1st metacarpal, Aplasia/Hypoplasia of the fibula, Aplasia/Hypoplasia of the middle phalanges of the toes, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Aplasia/Hypoplasia of the thumb, Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Bowing of the long bones, Brachydactyly, Bracket epiphysis of the middle phalanx of the 2nd finger, Bracket epiphysis of the middle phalanx of the 5th finger, Broad foot, Broad hallux, Carpal synostosis, Clinodactyly of the 5th finger, Complete duplication of distal phalanx of the thumb, Cone-shaped epiphysis, Delayed speech and language development, Disproportionate short-limb short stature, Fibular aplasia, Fibular hypoplasia, Hallux valgus, Hypergonadotropic hypogonadism, Hypoplasia of the ulna, Hypoplasia of the uterus, Joint stiffness, Limitation of joint mobility, Medially deviated second toe, Micromelia, Narrow nasal bridge, Poor motor coordination, Postaxial hand polydactyly, Primary amenorrhea, Pseudoepiphyses of the 2nd finger, Radial deviation of finger, Radial deviation of the 2nd finger, Sarcoma, Short 2nd finger, Short distal phalanx of the 2nd finger, Short distal phalanx of the thumb, Short femoral neck, Short finger, Short foot, Short hallux, Short metatarsal, Short middle phalanx of finger, Short middle phalanx of the 5th finger, Short phalanx of finger, Short proximal phalanx of finger, Short proximal phalanx of thumb, Short stature, Short thumb, Short tibia, Short toe, Skeletal dysplasia, Stippling of the epiphysis of the distal phalanx of the thumb, Synostosis of carpal bones, Talipes equinovarus, Tarsal synostosis, Triangular shaped middle phalanx of the 2nd finger, Triangular shaped middle phalanx of the 5th finger, Type A2 brachydactyly, Type C brachydactyly, Ulnar deviation of finger, Ulnar deviation of the 2nd finger, Widened proximal tibial metaphyses
SLCO1C1	SLCO1C1	1.725	0	Membrane transport protein	BrainSpLMD|53919;Eurexp|euxassay_007061|4th ventricle, choroid plexus, forebrain, hindbrain, meninges, midbrain, spinal cord, ventricular layer	OMIM|613389
SFXN5	SFXN5	2.474	0	Transport/cargo protein	BrainSpLMD|94097;Eurexp|euxassay_014475|ventricular layer	OMIM|615572
GPM6A	GPM6A	2.367	0	Integral membrane protein	BrainSpLMD|2823;Eurexp|euxassay_005521|brain, diaphragm, epithelium, lip, mesenchyme, mesothelium, neural retina, olfactory, pericardial cavity, spinal cord, stroma	OMIM|601275
SLC7A11	SLC7A11	1.786	0	Membrane transport protein	BrainSpLMD|23657;Eurexp|euxassay_012149|choroid invagination, lens, meninges, olfactory, ventricular layer	OMIM|607933
NPAS3	NPAS3	2.870	0	Transcription factor	BrainSpLMD|64067;Eurexp|euxassay_009424|mantle layer, ventral grey horn, ventricular layer;BrainSpMouseDev|27131	OMIM|609430
GJA1	GJA1	1.923	0	Membrane transport protein	BrainSpLMD|2697;BrainSpMouseDev|14385	OMIM|121014;HPO|2697|2-4 toe cutaneous syndactyly, 3-4 toe syndactyly, 4-5 finger syndactyly, Abnormal blistering of the skin, Abnormal cortical bone morphology, Abnormality of dental enamel, Abnormality of dental morphology, Abnormality of the cerebral white matter, Abnormality of the fingernails, Abnormality of the metaphysis, Abnormality of the nasopharynx, Abnormality of the thorax, Absent middle phalanx of 5th finger, Alopecia, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the middle phalanges of the hand, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Basal ganglia calcification, Blepharophimosis, Bony paranasal bossing, Brachycephaly, Broad alveolar ridges, Broad columella, Broad long bones, Camptodactyly of finger, Carious teeth, Cataract, Cerebral calcification, Cleft palate, Cleft upper lip, Clinodactyly, Clinodactyly of the 5th finger, Club-shaped distal femur, Coarse facial features, Conductive hearing impairment, Congenital alopecia totalis, Congestive heart failure, Cranial hyperostosis, Craniofacial hyperostosis, Cubitus valgus, Curly hair, Cutaneous photosensitivity, Cyanosis, Delayed eruption of permanent teeth, Delayed eruption of teeth, Delayed skeletal maturation, Dental crowding, Dental malocclusion, Depressed nasal bridge, Diabetes mellitus, Downslanted palpebral fissures, Dry hair, Dry skin, Dysarthria, Dystrophic fingernails, Epicanthus, Epidermal acanthosis, Erythema, External ear malformation, Facial hyperostosis, Facial palsy, Failure to thrive, Fifth finger distal phalanx clinodactyly, Fine hair, Finger syndactyly, Fingernail dysplasia, First degree atrioventricular block, Flared metaphysis, Fragile nails, Frontal bossing, Gait disturbance, Generalized hyperkeratosis, Glaucoma, High forehead, High-grade hypermetropia, Hip dislocation, Hyperactive deep tendon reflexes, Hypergranulosis, Hypermelanotic macule, Hyperreflexia, Hypertelorism, Hypoplasia of dental enamel, Hypoplasia of teeth, Hypoplasia of the maxilla, Hypoplastic aortic arch, Hypoplastic left heart, Hypotelorism, Hypotrichosis, Infantile onset, Inlet ventricular septal defect, Intellectual disability, Joint contracture of the 5th finger, Large earlobe, Long nose, Long philtrum, Low-set ears, Macrocephaly, Macrodontia of permanent maxillary central incisor, Mandibular prognathia, Median cleft lip, Metaphyseal dysplasia, Microcephaly, Microcornea, Microdontia, Micrognathia, Microphthalmia, Mild global developmental delay, Mixed hearing impairment, Muscle weakness, Myopia, Nail dysplasia, Narrow mouth, Narrow nasal bridge, Narrow nose, Nasal obstruction, Neurogenic bladder, Optic atrophy, Osteopetrosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Paraparesis, Patchy palmoplantar keratoderma, Patchy sclerosis of finger phalanx, Persistent pupillary membrane, Phenotypic variability, Premature loss of primary teeth, Premature loss of teeth, Primum atrial septal defect, Prominent epicanthal folds, Pulmonary arterial hypertension, Reduced number of teeth, Seizures, Selective tooth agenesis, Short 5th finger, Short foot, Short middle phalanx of the 5th finger, Short nose, Short palpebral fissure, Short stature, Skeletal dysplasia, Skin rash, Slow-growing hair, Small hand, Sparse eyelashes, Sparse hair, Spastic paraparesis, Spasticity, Telecanthus, Tetraparesis, Thin anteverted nares, Thin vermilion border, Toe syndactyly, Underdeveloped nasal alae, Vertebral hyperostosis, Visual impairment, Weight loss, Wide nasal bridge
MSI2	MSI2	2.647	0	RNA binding protein	BrainSpLMD|124540	OMIM|607897;COSMIC||CML
PITPNC1	PITPNC1	2.976	0	Transport/cargo protein	BrainSpLMD|26207	OMIM|605134
TNIK	TNIK	2.557	0	Serine/threonine kinase	BrainSpLMD|23043	OMIM|610005;HPO|23043|Autosomal recessive inheritance, Delayed speech and language development, Hyperactivity, Intellectual disability
AHCYL2	AHCYL2	2.206	0	Enzyme: Lyase;Unclassified	BrainSpLMD|23382;Eurexp|euxassay_009089|adrenal gland, choroid plexus, facial VII, glossopharyngeal IX, hindgut, incisor, mantle layer, midgut, molar, naris, olfactory, rectum, stomach, trigeminal V, vagus X	OMIM|616520
GABRB1	GABRB1	2.166	0	Extracellular ligand gated channel	BrainSpLMD|2560;BrainSpMouseDev|14176	SFARI||Autism, 5 - Hypothesized but untested;OMIM|137190;HPO|2560|Ataxia, Autosomal dominant inheritance, Cortical visual impairment, Developmental regression, Epileptic encephalopathy, Generalized hypotonia, Global developmental delay, Hypoplasia of the corpus callosum, Hypsarrhythmia, Infantile onset, Seizures
RANBP3L	RANBP3L	1.855	0	Unclassified	BrainSpLMD|202151	OMIM|616391
ADGRV1	ADGRV1	4.142	0	G protein coupled receptor	BrainSpLMD|84059;Eurexp|euxassay_010149|ventricular layer;BrainSpMouseDev|74944	OMIM|602851;HPO|84059|Abnormal electroretinogram, Atonic seizures, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Childhood onset, Congenital sensorineural hearing impairment, Febrile seizures, Generalized tonic seizures, Generalized tonic-clonic seizures, Hemianopia, Heterogeneous, Infantile onset, Iris hypopigmentation, Myopia, Nyctalopia, Rod-cone dystrophy, Scotoma, Sensorineural hearing impairment, Visual loss
CACNB2	CACNB2	2.667	0	Voltage gated channel	BrainSpLMD|783;Eurexp|euxassay_008283|epithalamus, marginal layer, ventricular layer	SFARI||Autism, 3 - Suggestive evidence;OMIM|600003;HPO|783|Atrial fibrillation, Autosomal dominant inheritance, Shortened QT interval, Syncope
CTNND2	CTNND2	1.571	0	Adhesion molecule	BrainSpLMD|1501;Eurexp|euxassay_018872|dorsal root ganglion, facial VII, neural retina, trigeminal V	SFARI||Autism, 2 - Strong candidate;OMIM|604275;COSMIC||prostae adenocarcinoma, GIST;HPO|1501|Cat cry, Downslanted palpebral fissures, Epicanthus, High palate, High pitched voice, Hypertelorism, Intellectual disability, severe, Intrauterine growth retardation, Low-set, posteriorly rotated ears, Microcephaly, Microretrognathia, Muscular hypotonia, Round face, Scoliosis, Severe global developmental delay, Short neck, Short stature, Small hand, Wide nasal bridge
AQP4	AQP4	2.145	0	Water channel	BrainSpLMD|361;Eurexp|euxassay_004747|hindbrain, lung, metanephros, midbrain, olfactory, pancreas, spinal cord, stomach, trigeminal V, ventral grey horn, ventricular layer;BrainSpMouseDev|11616	OMIM|600308
HPSE2	HPSE2	2.642	0	Enzyme: Glycosidase	BrainSpLMD|60495	OMIM|613469;HPO|60495|Abnormal facial expression, Abnormal facial shape, Autosomal recessive inheritance, Constipation, Cryptorchidism, Enuresis, Hydronephrosis, Hydroureter, Recurrent urinary tract infections, Urethral obstruction, Urethral valve, Urinary incontinence, Vesicoureteral reflux
GPC5	GPC5	4.784	0	Cell surface receptor	BrainSpLMD|2262;Eurexp|euxassay_011731|footplate, mantle layer, marginal layer	OMIM|602446
NRXN1	NRXN1	1.729	0	Cell surface receptor	BrainSpLMD|9378;Eurexp|euxassay_005585|arm, cervical, cervico-thoracic, dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, leg, midbrain, neural retina, olfactory, oral epithelium, respiratory, spinal cord, thoracic, trigeminal V, trunk mesenchyme, vagus X, vestibulocochlear VIII, vomeronasal organ;BrainSpMouseDev|17956	SFARI||Autism, 2 - Strong candidate;OMIM|600565;HPO|9378|Autosomal recessive inheritance, Constipation, Drooling, Epileptic encephalopathy, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Hyperventilation, Intellectual disability, severe, Protruding tongue, Pulmonic stenosis, Scoliosis, Strabismus, Wide mouth
NTM	NTM	2.258	0	Adhesion molecule	BrainSpLMD|50863;Eurexp|euxassay_012548|axial skeleton, dorsal root ganglion, facial VII, glossopharyngeal IX, mantle layer, meninges, mesenchyme, neural retina, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|87964	OMIM|607938
CADM1	CADM1	2.155	0	Adhesion molecule	BrainSpLMD|23705;Eurexp|euxassay_014807|Meckel's cartilage, brain, cervical, cervico-thoracic, cochlea, cortex, dorsal root ganglion, facial VII, frontal bone primordium, glossopharyngeal IX, incisor, lung, molar, olfactory, orbito-sphenoid, pharyngo-tympanic tube, pituitary, spinal cord, submandibular gland primordium, thoracic, trachea, trigeminal V, urethra, vagus X, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|34014	SFARI||Autism, 4 - Minimal evidence;OMIM|605686
FBXL7	FBXL7	2.385	0	Ubiquitin proteasome system protein	BrainSpLMD|23194	OMIM|605656
PRKG1	PRKG1	2.511	0	Serine/threonine kinase	BrainSpLMD|5592;Eurexp|euxassay_009525|dorsal root ganglion, facial VII, glossopharyngeal IX, head mesenchyme, hindgut, mantle layer, midgut, stomach, trigeminal V, turbinate bones, ventral grey horn, vestibulocochlear VIII	OMIM|176894;HPO|5592|Abnormality of the iris, Aortic regurgitation, Ascending aortic dissection, Autosomal dominant inheritance, Cardiomegaly, Chest pain, Coronary artery disease, Cutis marmorata, Cystic medial necrosis of the aorta, Descending aortic dissection, Dilatation of the thoracic aorta, Exertional dyspnea, Hypertension, Left ventricular failure, Paroxysmal dyspnea
LSAMP	LSAMP	1.922	0	Adhesion molecule	BrainSpLMD|4045	OMIM|603241
NRG3	NRG3	1.496	0	Growth factor	BrainSpMouseDev|17950	OMIM|605533
NKAIN3	NKAIN3	3.121	0	Unclassified	BrainSpLMD|286183	OMIM|612872
RYR3	RYR3	2.497	0	Intracellular ligand gated channel	BrainSpLMD|6263	OMIM|180903
MIR99AHG	MIR99AHG	2.070	0	Unclassified		OMIM|615964
RNF219-AS1	RNF219-AS1	3.567	0			
AC002429.5	AC002429.5	1.846	0			
RP11-384F7.2	RP11-384F7.2	2.127	0			
NEAT1	NEAT1	2.434	0			OMIM|612769
FGFR3	FGFR3	1.606	0	Receptor tyrosine kinase;Tyrosine kinase	BrainSpLMD|2261;Eurexp|euxassay_006120|embryo;BrainSpMouseDev|13961	OMIM|134934;COSMIC||bladder, MM, T-cell lymphoma, Hypochondroplasia, Thanatophoric dysplasia;HPO|2261|2-3 finger syndactyly, Abnormal form of the vertebral bodies, Abnormality of femur morphology, Abnormality of lower limb joint, Abnormality of metabolism/homeostasis, Abnormality of pelvic girdle bone morphology, Abnormality of the antihelix, Abnormality of the cervical spine, Abnormality of the clavicle, Abnormality of the elbow, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Abnormality of the ribs, Absence of Stensen duct, Absent lacrimal punctum, Absent proximal phalanx of thumb, Absent radius, Acanthosis nigricans, Alacrima, Anteverted nares, Aplasia of the parotid gland, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia of the mandible, Aplasia/hypoplasia of the extremities, Arachnodactyly, Arnold-Chiari malformation, Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral single transverse palmar creases, Bilateral triphalangeal thumbs, Blepharospasm, Bowing of the long bones, Brachycephaly, Brachydactyly, Brain atrophy, Brain stem compression, Broad femoral metaphyses, Broad forehead, Broad hallux, Camptodactyly of finger, Camptodactyly of toe, Capitate-hamate fusion, Carious teeth, Carpal synostosis, Central apnea, Childhood onset short-limb short stature, Choanal atresia, Chronic otitis media, Clinodactyly, Clinodactyly of the 5th finger, Cloverleaf skull, Cognitive impairment, Conductive hearing impairment, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphysis, Conical incisor, Convex nasal ridge, Corneal perforation, Coronal craniosynostosis, Coronal hypospadias, Craniosynostosis, Cryptorchidism, Cupped ear, Dacryocystitis, Decreased fetal movement, Delayed cranial suture closure, Delayed eruption of primary teeth, Dental crowding, Dental malocclusion, Depressed nasal bridge, Diaphyseal thickening, Downslanted palpebral fissures, Enlarged cerebellum, Excessive wrinkled skin, External ear malformation, Facial asymmetry, Femoral bowing, Fibular bowing, Finger syndactyly, Flared metaphysis, Flat face, Frontal bossing, Generalized joint laxity, Generalized seizures, Genu varum, Global developmental delay, Gonadal dysgenesis, Hearing impairment, Hereditary nonpolyposis colorectal carcinoma, Heterotopia, High forehead, High palate, High, narrow palate, Hydrocephalus, Hyperextensible skin, Hyperhidrosis, Hyperlordosis, Hypertelorism, Hypodontia, Hypoplasia of dental enamel, Hypoplasia of the corpus callosum, Hypoplasia of the lacrimal puncta, Hypoplasia of the maxilla, Hypoplasia of the radius, Hypoplasia of the ulna, Hypoplastic ilia, Hypoplastic lacrimal duct, Increased intracranial pressure, Increased nuchal translucency, Increased vertebral height, Infantile muscular hypotonia, Inflammatory abnormality of the eye, Intellectual disability, Intellectual disability, profound, Intellectual disability, severe, Intrauterine growth retardation, Joint contracture of the hand, Joint hyperflexibility, Kyphosis, Lacrimal gland aplasia, Lacrimal gland hypoplasia, Lethal short-limbed short stature, Limited elbow extension, Limited hip extension, Long thorax, Low anterior hairline, Lumbar hyperlordosis, Lumbar kyphosis in infancy, Macrocephaly, Malar flattening, Megalencephaly, Melanocytic nevus, Mesomelia, Metaphyseal chondrodysplasia, Metaphyseal irregularity, Microcephaly, Micromelia, Microtia, Midface retrusion, Mixed hearing impairment, Motor delay, Muscular hypotonia, Narrow chest, Narrow internal auditory canal, Narrow palate, Narrow sacroiliac notch, Nasolacrimal duct obstruction, Neonatal death, Neonatal short-limb short stature, Neoplasm, Neoplasm of the stomach, Nephrosclerosis, Numerous nevi, Obesity, Obstructive sleep apnea, Open bite, Osteochondroma, Otitis media, Partial duplication of thumb phalanx, Pectus excavatum, Periorbital fullness, Plagiocephaly, Platyspondyly, Polyhydramnios, Preaxial polydactyly, Prominent crus of helix, Prominent nasal bridge, Proptosis, Ptosis, Radial deviation of finger, Radial deviation of the 3rd finger, Recurrent corneal erosions, Recurrent otitis media, Redundant skin, Renal agenesis, Renal cell carcinoma, Respiratory insufficiency, Rhizomelia, Scoliosis, Seizures, Sensorineural hearing impairment, Severe global developmental delay, Severe platyspondyly, Severe short stature, Short femoral neck, Short femur, Short foot, Short long bone, Short middle phalanx of finger, Short middle phalanx of toe, Short palm, Short ribs, Short sacroiliac notch, Short stature, Short thorax, Short toe, Skeletal dysplasia, Sleep apnea, Small abnormally formed scapulae, Small face, Small foramen magnum, Small thenar eminence, Somatic mutation, Spinal stenosis with reduced interpedicular distance, Split hand, Sporadic, Strabismus, Tall stature, Tarsal synostosis, Telecanthus, Teratoma, Thimble-shaped middle phalanges of hand, Tibial bowing, Transitional cell carcinoma of the bladder, Trident hand, Turricephaly, Underdeveloped supraorbital ridges, Upper airway obstruction, Uterine leiomyosarcoma, Ventriculomegaly, Visual field defect, Wide anterior fontanel, Wide-cupped costochondral junctions, Wormian bones, Xerostomia
ZBTB20	ZBTB20	2.231	0	Transcription factor	BrainSpLMD|26137;BrainSpMouseDev|35770	SFARI||Autism, 3 - Suggestive evidence;OMIM|606025;HPO|26137|Abnormality of the palate, Absent axillary hair, Absent facial hair, Anemia, Anonychia, Autosomal dominant inheritance, Basilar impression, Bilateral cryptorchidism, Bone cyst, Brachycephaly, Broad forehead, Calcification of the auricular cartilage, Cataract, Conductive hearing impairment, Deeply set eye, Developmental regression, Distal amyotrophy, Downslanted palpebral fissures, Downturned corners of mouth, Gait disturbance, Generalized hypotonia, Generalized osteoporosis, Genu valgum, Gynecomastia, Hearing impairment, Hip contracture, Hydrocephalus, Hypogonadism, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Increased size of the mandible, Intellectual disability, Irregular vertebral endplates, Knee flexion contracture, Kyphosis, Macrocephaly, Macrotia, Malar flattening, Metatarsus adductus, Midface retrusion, Myopathy, Narrow chest, Narrow iliac wings, Narrow mouth, Neurodegeneration, Osteolysis, Pectus excavatum, Pes cavus, Plagiocephaly, Posterior polar cataract, Posterior scalloping of vertebral bodies, Ptosis, Scoliosis, Seizures, Short distal phalanx of finger, Short stature, Sparse scalp hair, Sporadic, Superiorly displaced ears, Synophrys, Thick lower lip vermilion, Truncal obesity
MACF1	MACF1	1.605	1.3851E-303	Cytoskeletal associated protein	BrainSpLMD|23499;Eurexp|euxassay_011134|brain, diaphragm, extraembryonic component, facial VII, footplate, glossopharyngeal IX, handplate, left lung, metanephros, oesophagus, paraxial mesenchyme, rest of mesenchyme, right lung, skeletal muscle, spinal cord, trigeminal V, vagus X, vertebral axis muscle system, vibrissa	OMIM|608271
TRPS1	TRPS1	2.079	1.3113E-295	Transcription factor	BrainSpLMD|7227;Eurexp|euxassay_011487|axial skeleton, basioccipital bone, basisphenoid bone, bladder, clavicle, cornea, cricoid, diaphragm, dorsal grey horn, exoccipital bone, femur, humerus, knee, lip, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metanephros, midgut, molar, nasal septum, orbito-sphenoid, otic capsule, pelvic girdle, rib, skeletal muscle, sternum, stomach, submandibular gland primordium, thyroid, tongue, trachea, ureter, ventral grey horn, ventricular layer, vibrissa;BrainSpMouseDev|58142	OMIM|604386;HPO|7227|Abnormality of the nervous system, Abnormally low-pitched voice, Accelerated bone age after puberty, Aplasia/Hypoplasia of the mandible, Arthralgia, Autosomal dominant inheritance, Avascular necrosis of the capital femoral epiphysis, Bone pain, Bulbous nose, Camptodactyly of finger, Carious teeth, Chin with horizontal crease, Clinodactyly of the 5th finger, Concave nail, Cone-shaped epiphyses of the middle phalanges of the hand, Cone-shaped epiphyses of the phalanges of the hand, Cone-shaped epiphyses of the proximal phalanges of the hand, Cone-shaped epiphysis, Coxa magna, Deep philtrum, Delayed eruption of teeth, Delayed skeletal maturation, Dental crowding, Dental malocclusion, Fine hair, Flat capital femoral epiphysis, Fragile nails, Frontal bossing, Generalized hypotonia, High palate, Hyperlordosis, Increased number of teeth, Infantile muscular hypotonia, Intellectual disability, Ivory epiphyses of the distal phalanges of the hand, Joint dislocation, Joint hyperflexibility, Leukonychia, Long philtrum, Long upper lip, Low-set, posteriorly rotated ears, Macrotia, Microdontia, Micrognathia, Multiple long-bone exostoses, Muscular hypotonia, Narrow palate, Osteoarthritis, Osteopenia, Pear-shaped nose, Pectus carinatum, Pes planus, Protruding ear, Recurrent respiratory infections, Redundant skin, Scapular winging, Scoliosis, Short distal phalanx of finger, Short finger, Short foot, Short metacarpal, Short metatarsal, Short palm, Short phalanx of finger, Short stature, Shortening of all phalanges of fingers, Slow-growing hair, Smooth philtrum, Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Sparse lateral eyebrow, Sparse scalp hair, Swelling of proximal interphalangeal joints, Thick eyebrow, Thin eyebrow, Thin nail, Thin upper lip vermilion, Triangular face, Underdeveloped nasal alae
NFIA	NFIA	2.125	5.7715E-294	Transcription factor	BrainSpLMD|4774;BrainSpMouseDev|17794	SFARI||Autism, 4 - Minimal evidence;OMIM|600727;HPO|4774|Agenesis of corpus callosum, Anteverted nares, Arnold-Chiari type I malformation, Broad face, Broad forehead, Cognitive impairment, Cutis marmorata, Generalized hypotonia, Global developmental delay, Hydronephrosis, Hypoplasia of the corpus callosum, Inguinal hernia, Intellectual disability, Low-set ears, Macrocephaly, Narrow mouth, Phenotypic variability, Renal hypoplasia, Seizures, Short chin, Short nose, Sporadic, Syringomyelia, Thin upper lip vermilion, Ventriculomegaly, Vesicoureteral reflux
SHROOM3	SHROOM3	1.937	1.0484E-293	Adapter molecule	BrainSpLMD|57619;Eurexp|euxassay_012216|cortex, midgut, olfactory, ventricular layer, vertebral axis muscle system	OMIM|604570
ETNPPL	ETNPPL	1.426	1.8113E-292	Enzyme: Transferase	BrainSpLMD|64850	OMIM|614682
GLI3	GLI3	1.479	2.5581E-290	Transcription factor	BrainSpLMD|2737;Eurexp|euxassay_018378|axial skeleton, mesenchyme, phalanx, ventricular layer;BrainSpMouseDev|14410	OMIM|165240;HPO|2737|1-5 toe syndactyly, 3-4 finger syndactyly, Abnormal lung lobation, Abnormality of earlobe, Accelerated skeletal maturation, Anal atresia, Aplasia/Hypoplasia of the corpus callosum, Autosomal dominant inheritance, Bifid epiglottis, Broad hallux phalanx, Broad thumb, Cryptorchidism, Dandy-Walker malformation, Decreased circulating cortisol level, Decreased testicular size, Distal shortening of limbs, Distal urethral duplication, Dysplastic distal thumb phalanges with a central hole, Ectopic kidney, Esophageal atresia, Finger syndactyly, Frontal bossing, Growth hormone deficiency, High forehead, Hip dislocation, Holoprosencephaly, Hydronephrosis, Hydroureter, Hypertelorism, Hypoplasia of the epiglottis, Intellectual disability, severe, Intrauterine growth retardation, Laryngeal cleft, Macrocephaly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Micropenis, Nail dysplasia, Neonatal death, Panhypopituitarism, Postaxial foot polydactyly, Postaxial hand polydactyly, Preaxial foot polydactyly, Preaxial polydactyly, Precocious puberty, Preductal coarctation of the aorta, Prominent occiput, Radial head subluxation, Renal cyst, Renal dysplasia, Renal hypoplasia, Scaphocephaly, Seizures, Short nose, Short stature, Sloping forehead, Telecanthus, Thyroid dysgenesis, Toe syndactyly, Tracheoesophageal fistula, Trigonocephaly, Triphalangeal thumb, Variable expressivity, Ventricular septal defect, Wide nasal bridge
RP11-436D23.1	RP11-436D23.1	2.251	3.3798E-288			
CDH20	CDH20	2.191	6.6143E-287	Adhesion molecule	BrainSpLMD|28316;BrainSpMouseDev|23589	OMIM|605807
LINC00299	LINC00299	1.630	2.3462E-284	Unclassified	BrainSpLMD|339789	
NEBL	NEBL	1.988	3.2475E-281	Cytoskeletal associated protein	BrainSpLMD|10529	OMIM|605491;HPO|10529|Dilated cardiomyopathy
HIF3A	HIF3A	1.589	4.0826E-278	Transcription factor	BrainSpLMD|64344;BrainSpMouseDev|32897	OMIM|609976
ABLIM1	ABLIM1	1.988	5.6348E-278	Cytoskeletal associated protein	BrainSpLMD|3983	OMIM|602330
STON2	STON2	1.474	2.0235E-273	Unclassified	BrainSpLMD|85439	OMIM|608467
ZNF98	ZNF98	2.024	2.8615E-269	Transcription factor		OMIM|603980
F3	F3	1.400	6.5188E-269	Coagulation factor	BrainSpLMD|2152;Eurexp|euxassay_009157|axial muscle, calyces, epithelium, larynx, left lung, midgut, olfactory, oral epithelium, pelvis, pharyngo-tympanic tube, pyloric region, rectum, right lung, ventricular layer, vibrissa	OMIM|134390
NDRG2	NDRG2	1.717	3.3776E-268	Enzyme: Hydrolase	BrainSpLMD|57447;Eurexp|euxassay_018237|anterior, choroid plexus, cricoid, dorsal root ganglion, facial VII, femur, glossopharyngeal IX, humerus, mantle layer, naris, nasal septum, otic capsule, phalanx, rectum, rib, sternum, thyroid, trigeminal V, turbinate bones, vagus X, ventricle, ventricular layer, vestibulocochlear VIII	OMIM|605272
PAMR1	PAMR1	1.637	3.6972E-268	Unclassified	BrainSpLMD|25891;Eurexp|euxassay_002904|axial skeleton, body-wall mesenchyme, calyces, clavicle, cranium, foregut-midgut junction, head mesenchyme, hindgut, intervertebral disc, limb, lip, loop, mesenchyme, metatarsus, midgut, pancreas, pectoral girdle and thoracic body wall, phalanx, rectum, renal/urinary system, skeletal muscle, stomach, tail, tongue, ventricular layer, vertebral axis muscle system, vertebral cartilage condensation	
ACSBG1	ACSBG1	1.369	6.0083E-262	Enzyme: Synthase	BrainSpLMD|23205;Eurexp|euxassay_017864|Meckel's cartilage, axial skeleton, basioccipital bone, basisphenoid bone, exoccipital bone, femur, fibula, humerus, orbito-sphenoid, pelvic girdle, rib, scapula, temporal bone, testis, tibia, turbinate, vault of skull	OMIM|614362
SPON1	SPON1	1.618	1.8201E-260	Extracellular matrix protein	BrainSpLMD|10418;Eurexp|euxassay_009887|aorta, mandible, mantle layer, marginal layer, maxilla, pharyngo-tympanic tube, ventral grey horn, ventricular layer	OMIM|604989
PTPRZ1	PTPRZ1	1.713	2.5018E-259	Receptor tyrosine phosphatase	BrainSpLMD|5803;BrainSpMouseDev|19046	OMIM|176891
ARHGAP24	ARHGAP24	1.751	7.2556E-259	GTPase activating protein	BrainSpLMD|83478;Eurexp|euxassay_003218|Meckel's cartilage, axial skeleton, basal plate, calyces, choroid plexus, cranium, dorsal root ganglion, facial VII, glossopharyngeal IX, lateral recess, lobe, molar, orbito-sphenoid, pons, rib, trigeminal V, turbinate bones, vagus X, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa	SFARI||Autism, 5 - Hypothesized but untested;OMIM|610586
SORBS1	SORBS1	1.924	8.9179E-258	Cell junction protein	BrainSpLMD|10580;Eurexp|euxassay_003610|axial skeleton, basisphenoid bone, bladder, brain, dorsal root ganglion, facial VII, forelimb, glossopharyngeal IX, heart, hindlimb, incisor, lens, liver, lung, metanephros, midgut, nasal septum, oesophagus, olfactory, orbito-sphenoid, otic capsule, respiratory, retina, rib, spinal cord, sternum, stomach, tongue, trachea, trigeminal V, vagus X, vertebra, vertebral cartilage condensation, vestibulocochlear VIII;BrainSpMouseDev|20174	OMIM|605264
MT2A	MT2A	1.830	1.1237E-257	Unclassified	Eurexp|euxassay_004529|left, oesophagus, pancreas, pharyngo-tympanic tube, right, stomach, submandibular gland primordium, thyroid, vibrissa	OMIM|156360
SLC25A18	SLC25A18	1.400	7.5754E-257	Membrane transport protein	BrainSpLMD|83733	OMIM|609303
RORB	RORB	1.734	8.6915E-254	Transcription factor	BrainSpLMD|6096;Eurexp|euxassay_002725|diencephalon, dorsal grey horn, hindbrain, marginal layer, midbrain, neural retina, ventricular layer;BrainSpMouseDev|86335	OMIM|601972
RFX4	RFX4	1.665	1.064E-251	DNA binding protein	BrainSpLMD|5992;Eurexp|euxassay_005798|ventricular layer;BrainSpMouseDev|46978	OMIM|603958
LRRC3B	LRRC3B	1.721	5.0256E-250	Unclassified	BrainSpLMD|116135	
CLU	CLU	2.162	2.1189E-248	Complement protein	BrainSpLMD|1191;BrainSpMouseDev|12543	OMIM|185430
PARD3	PARD3	1.812	4.1411E-245	Adapter molecule	BrainSpLMD|56288;BrainSpMouseDev|60394	OMIM|606745
AC074363.1	AC074363.1	1.963	1.6682E-243			
CST3	CST3	1.794	2.2051E-240	Protease inhibitor	BrainSpLMD|1471;Eurexp|euxassay_004853|mantle layer, ventral grey horn, ventricular layer;BrainSpMouseDev|12793	OMIM|604312;HPO|1471|Autosomal dominant inheritance, Cerebral amyloid angiopathy, Cerebral hemorrhage, Dementia, Generalized amyloid deposition, Intracranial hemorrhage, Stroke
ATP1B2	ATP1B2	1.607	7.9678E-240	ATPase	BrainSpLMD|482;Eurexp|euxassay_011653|lobe, pituitary, ventral grey horn, ventricular layer;BrainSpMouseDev|11718	OMIM|182331
GRAMD3	GRAMD3	1.583	2.0807E-238			
RGS20	RGS20	1.472	5.2128E-237	GTPase activating protein	BrainSpLMD|8601;Eurexp|euxassay_009661|ventricular layer	OMIM|607193
CACHD1	CACHD1	1.558	7.0325E-237	Voltage gated channel	BrainSpLMD|57685;Eurexp|euxassay_006310|incisor, lung, mantle layer, molar, naris, penis, ventricular layer	
ITPR2	ITPR2	1.802	9.0814E-236	Transport/cargo protein	BrainSpLMD|3709;Eurexp|euxassay_013833|mantle layer	OMIM|600144;HPO|3709|Anhidrosis, Autosomal recessive inheritance, Generalized anhidrosis, Heat intolerance
ATP13A4	ATP13A4	1.399	3.1255E-235	ATPase	BrainSpLMD|84239	OMIM|609556
PLPP3	PLPP3	1.540	7.1622E-234	Enzyme: Acid phosphatase	BrainSpLMD|8613;Eurexp|euxassay_006582|bladder, diaphragm, ductus deferens, extrinsic ocular muscle, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lip, mesenchyme, metanephros, nasal septum, palatal shelf, penis, skeletal muscle, ventricular layer, vibrissa	OMIM|607125
APC	APC	1.779	2.9796E-232	Adhesion molecule	BrainSpLMD|324;Eurexp|euxassay_007660|cervical, cervico-thoracic, diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, telencephalon, thoracic, trigeminal V, vestibulocochlear VIII;BrainSpMouseDev|11576	SFARI||Autism, 5 - Hypothesized but untested;OMIM|611731;COSMIC||colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS, colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS;HPO|324|Abdominal pain, Abnormality of retinal pigmentation, Abnormality of the abdominal wall, Abnormality of the musculature, Adenomatous colonic polyposis, Adrenocortical carcinoma, Astrocytoma, Autosomal dominant inheritance, Colon cancer, Desmoid tumors, Epidermoid cyst, Hepatocellular carcinoma, Hereditary nonpolyposis colorectal carcinoma, Heterogeneous, Hyperpigmentation of the skin, Intestinal polyposis, Keloids, Malabsorption, Micronodular cirrhosis, Multiple gastric polyps, Multiple lipomas, Myalgia, Neoplasm of the stomach, Odontoma, Renal cell carcinoma, Small intestine carcinoid, Somatic mutation, Stomach cancer, Subacute progressive viral hepatitis, Subcutaneous nodule, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma, Variable expressivity
PON2	PON2	1.418	1.7836E-231	Enzyme: Esterase	BrainSpLMD|5445	OMIM|602447;HPO|5445|Amyotrophic lateral sclerosis, Anxiety, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Skeletal muscle atrophy, Spasticity, Xerostomia
MT3	MT3	1.889	6.1877E-231	Unclassified	BrainSpLMD|4504;Eurexp|euxassay_012667|dorsal root ganglion, glossopharyngeal IX, trigeminal V, ventral grey horn, ventricular layer	OMIM|139255
AGT	AGT	1.207	6.3814E-226	Peptide hormone	BrainSpLMD|183;Eurexp|euxassay_011357|axial skeleton, liver;BrainSpMouseDev|11393	OMIM|106150;HPO|183|Anuria, Autosomal recessive inheritance, Hypotension, Microcephaly, Oligohydramnios, Potter facies, Pulmonary hypoplasia, Renotubular dysgenesis, Respiratory insufficiency, Widely patent fontanelles and sutures
OPHN1	OPHN1	1.770	4.3991E-225	GTPase activating protein	BrainSpLMD|4983	SFARI||Autism, 3 - Suggestive evidence;OMIM|300127;HPO|4983|Attention deficit hyperactivity disorder, Autism, Cerebellar hypoplasia, Cryptorchidism, Deeply set eye, Delayed speech and language development, Disorganization of the anterior cerebellar vermis, Dysmetria, Enlarged cisterna magna, Frontal bossing, Gait ataxia, Generalized hypotonia, Global developmental delay, Hyperactivity, Hypotelorism, Infantile onset, Intellectual disability, Long face, Long nose, Macrocephaly, Macrotia, Mandibular prognathia, Micropenis, Microphallus, Muscular hypotonia, Neurological speech impairment, Nystagmus, Prominent forehead, Prominent supraorbital ridges, Retrocerebellar cyst, Scrotal hypoplasia, Seizures, Short philtrum, Spasticity, Strabismus, Thin upper lip vermilion, X-linked recessive inheritance
RP11-444D3.1	RP11-444D3.1	1.767	4.422E-225			
ACSS1	ACSS1	1.242	3.1588E-222	Unclassified	BrainSpLMD|84532;Eurexp|euxassay_018560|embryo	OMIM|614355
GLUD1	GLUD1	1.623	3.4188E-219	Enzyme: Dehydrogenase	BrainSpLMD|2746	OMIM|138130;HPO|2746|Asymptomatic hyperammonemia, Autosomal dominant inheritance, Heterogeneous, Hyperinsulinemic hypoglycemia, Hypoglycemic coma, Hypoglycemic seizures, Intellectual disability
PTGDS	PTGDS	1.890	2.2291E-218	Enzyme: Ligase	BrainSpLMD|5730;BrainSpMouseDev|18978	OMIM|176803
SOX5	SOX5	1.833	1.1211E-217	Transcription factor	BrainSpLMD|6660;BrainSpMouseDev|20440	SFARI||Autism, No category;OMIM|604975;HPO|6660|2-3 toe syndactyly, Abnormality of brain morphology, Anxiety, Autosomal dominant inheritance, Bulbous nose, Clinodactyly, Delayed speech and language development, Dental crowding, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Exaggerated median tongue furrow, Exotropia, Facial asymmetry, Frontal bossing, Generalized hypotonia, Global developmental delay, Hyperplasia of the maxilla, Intellectual disability, Low-set ears, Lumbar hyperlordosis, Motor delay, Muscular hypotonia, Myopia, Narrow palate, Open mouth, Optic atrophy, Pectus carinatum, Phenotypic variability, Posteriorly rotated ears, Scoliosis, Strabismus, Thoracic kyphoscoliosis, Vertebral fusion, Wide nasal bridge
MEIS2	MEIS2	1.729	1.4537E-217	Transcription factor	BrainSpLMD|4212;BrainSpMouseDev|17303	OMIM|601740;HPO|4212|2-3 toe syndactyly, Atrial septal defect, Autistic behavior, Autosomal dominant inheritance, Biparietal narrowing, Broad hallux, Broad thumb, Cleft palate, Cleft upper lip, Coarctation of aorta, Deeply set eye, Delayed speech and language development, Gastroesophageal reflux, Global developmental delay, High anterior hairline, Highly arched eyebrow, Intellectual disability, Large forehead, Microcephaly, Narrow forehead, Pointed chin, Sandal gap, Short 2nd finger, Short 5th finger, Short philtrum, Short stature, Smooth philtrum, Sparse eyebrow, Tented upper lip vermilion, Upslanted palpebral fissure, Ventricular septal defect
MMD2	MMD2	1.616	5.8659E-217	Integral membrane protein	BrainSpLMD|221938;Eurexp|euxassay_018869|basal plate, cerebral cortex, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, intermediate grey horn, lobe, mantle layer, marginal layer, olfactory lobe, thoracic, trigeminal V, vagus X, ventral grey horn, ventricular layer	OMIM|614581
SASH1	SASH1	1.654	5.0428E-215	Adapter molecule	BrainSpLMD|23328	OMIM|607955
FMN2	FMN2	1.618	1.0281E-214	Cytoskeletal associated protein	BrainSpLMD|56776	OMIM|606373;HPO|56776|Autosomal recessive inheritance, Global developmental delay, Infantile onset, Intellectual disability, Poor speech
NTRK2	NTRK2	1.341	1.318E-213	Receptor tyrosine kinase	BrainSpLMD|4915;BrainSpMouseDev|17979	OMIM|600456;HPO|4915|Autosomal dominant inheritance, Facial asymmetry, Obesity, Polyphagia, Severe global developmental delay, Stereotypy
SPARCL1	SPARCL1	1.959	2.197E-213	Secreted polypeptide	BrainSpLMD|8404	SFARI||Autism, 3 - Suggestive evidence;OMIM|606041
MGST1	MGST1	1.527	1.8358E-212	Enzyme: Glutathione transferase	BrainSpLMD|4257;Eurexp|euxassay_002928|adrenal gland, anal canal, axial muscle, bladder, calyces, ductus deferens, epidermis, foregut-midgut junction, head mesenchyme, hindgut, left lung, limb, lobe, marginal layer, midgut, naris, nasal capsule, nucleus pulposus, oesophagus, olfactory, pancreas, pelvis, pituitary, rectum, right lung, stomach, submandibular gland primordium, trachea, urethra, ventricular layer, vibrissa	OMIM|138330
EMX2	EMX2	1.066	1.1471E-211	Transcription factor	BrainSpLMD|2018;Eurexp|euxassay_019479|eyelid, lip, mantle layer, metanephros, olfactory, paramesonephric duct, phalanx, saccule, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|13575	OMIM|600035;HPO|2018|Schizencephaly
CTC-498M16.4	CTC-498M16.4	1.284	1.9994E-211			
ARHGEF26	ARHGEF26	1.182	3.4856E-211		BrainSpLMD|26084;Eurexp|euxassay_016114|ventricular layer	OMIM|617552
CABLES1	CABLES1	1.570	2.7475E-210	Adapter molecule	BrainSpLMD|91768;Eurexp|euxassay_012169|mantle layer, vibrissa	OMIM|609194
PRDM16	PRDM16	1.049	1.3286E-208	Transcription factor	BrainSpLMD|63976	OMIM|605557;COSMIC||MDS, AML;HPO|63976|Abnormal morphology of the left ventricle, Absent speech, Agenesis of corpus callosum, Autism, Autosomal dominant inheritance, Brachycephaly, Brachydactyly, Camptodactyly of finger, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Congestive heart failure, Constipation, Deeply set eye, Delayed cranial suture closure, Depressed nasal bridge, Depressed nasal ridge, Dilated cardiomyopathy, Dysphagia, EEG abnormality, Epicanthus, Failure to thrive, Feeding difficulties in infancy, Gait disturbance, Gastroesophageal reflux, Global developmental delay, High-grade hypermetropia, Horizontal eyebrow, Intellectual disability, Left ventricular noncompaction, Long philtrum, Low-set, posteriorly rotated ears, Microcephaly, Midface retrusion, Muscular hypotonia, Narrow mouth, Pointed chin, Poor speech, Seizures, Self-injurious behavior, Short foot, Stereotypy, Strabismus, Ventriculomegaly, Wide nasal bridge
ALDH1A1	ALDH1A1	1.303	4.9566E-207	Enzyme: Dehydrogenase	BrainSpLMD|216;BrainSpMouseDev|11455	OMIM|100640
ACOT11	ACOT11	1.379	5.0602E-204	Enzyme: Esterase	BrainSpLMD|26027	OMIM|606803
APOE	APOE	1.810	5.6931E-203	Transport/cargo protein	BrainSpLMD|348;Eurexp|euxassay_003949|choroid plexus, left, right;BrainSpMouseDev|11603	OMIM|107741;HPO|348|Abnormality of the eye, Absent axillary hair, Alzheimer disease, Atheromatosis, Autosomal dominant inheritance, Autosomal recessive inheritance, Blepharitis, Cerebral amyloid angiopathy, Cirrhosis, Corneal arcus, Decreased circulating high-density lipoprotein levels, Dementia, Diabetes mellitus, Edema, Glomerulopathy, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Increased circulating low-density lipoprotein levels, Late onset, Long-tract signs, Mediastinal lymphadenopathy, Mesangial hypercellularity, Middle age onset, Neurofibrillary tangles, Obesity, Parkinsonism, Petechiae, Proteinuria, Pulmonary infiltrates, Renal insufficiency, Sea-blue histiocytosis, Sleep-wake cycle disturbance, Splenomegaly, Subcutaneous nodule, Tendon xanthomatosis, Thrombocytopenia, Xanthelasma
PTN	PTN	1.650	8.0365E-203	Cytokine	BrainSpLMD|5764	OMIM|162095
TPD52L1	TPD52L1	1.345	6.5703E-202	Unclassified	BrainSpLMD|7164;Eurexp|euxassay_013576|choroid plexus, otic capsule, petrous part, roof plate;BrainSpMouseDev|21744	OMIM|604069
ARHGEF26-AS1	ARHGEF26-AS1	1.176	8.6422E-201			
GRM3	GRM3	1.848	6.0506E-200	G protein coupled receptor	BrainSpLMD|2913;BrainSpMouseDev|72231	OMIM|601115;COSMIC||melanoma, oral SCC
TCF7L2	TCF7L2	1.455	8.3719E-197	Transcription factor	BrainSpLMD|6934;Eurexp|euxassay_019472|lip, mantle layer, mesenchyme, midgut, pancreas, phalanx, skeletal muscle, sternum, stomach, trachea, ventricular layer, vertebral axis muscle system, vibrissa;BrainSpMouseDev|21177	SFARI||Autism, 3 - Suggestive evidence;OMIM|602228;COSMIC||colorectal
ZHX3	ZHX3	1.576	6.8527E-190	Transcription regulatory protein	BrainSpLMD|23051;Eurexp|euxassay_019571|cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, metanephros, midgut, thoracic, trigeminal V, vagus X, vibrissa;BrainSpMouseDev|107734	OMIM|609598
GNA14	GNA14	1.256	8.4145E-190	G protein	BrainSpLMD|9630;Eurexp|euxassay_002103|axial skeleton, calyces, dorsal root ganglion, foregut-midgut junction, hindgut, lung, midgut, oesophagus, rectum, stomach, trachea	SFARI||Autism, 6 - Evidence does not support role;OMIM|604397
MGAT4C	MGAT4C	1.781	3.1503E-189	Enzyme: Glucosaminyltransferase	BrainSpLMD|25834	OMIM|607385
ERBB4	ERBB4	1.772	4.4259E-187	Receptor tyrosine kinase	BrainSpLMD|2066;Eurexp|euxassay_008088|mantle layer, marginal layer, ventricular layer;BrainSpMouseDev|13647	SFARI||Autism, 5 - Hypothesized but untested;OMIM|600543;COSMIC||melanoma, gastric, NSCLC, Amyotrophic lateral sclerosis 19;HPO|2066|Adult onset, Amyotrophic lateral sclerosis, Anxiety, Autosomal dominant inheritance, Depressivity, Dyspnea, Emotional lability, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigue, Generalized muscle weakness, Loss of ability to walk, Muscle cramps, Neurodegeneration, Pain, Paralysis, Respiratory failure, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Spasticity, Xerostomia
CSGALNACT1	CSGALNACT1	1.615	6.3218E-186	Enzyme: Transferase	BrainSpLMD|55790	OMIM|616615
SGCD	SGCD	1.798	6.2734E-185	Adhesion molecule	BrainSpLMD|6444;Eurexp|euxassay_009461|mandible, maxilla;BrainSpMouseDev|23803	OMIM|601411;HPO|6444|Autosomal dominant inheritance, Autosomal recessive inheritance, Calf muscle hypertrophy, Difficulty walking, Dilated cardiomyopathy, Elevated serum creatine phosphokinase, Gowers sign, Muscular dystrophy, Proximal amyotrophy, Proximal muscle weakness, Reduced systolic function, Scapular winging, Ventricular hypertrophy
PRODH	PRODH	1.032	7.2022E-183	Enzyme: Dehydrogenase	BrainSpLMD|5625;BrainSpMouseDev|18888	SFARI||Autism, 3 - Suggestive evidence;OMIM|606810;HPO|5625|Aggressive behavior, Autosomal recessive inheritance, EEG abnormality, Generalized hypotonia, Global developmental delay, Hydroxyprolinuria, Hyperactivity, Hyperglycinuria, Hyperprolinemia, Intellectual disability, Nephropathy, Phenotypic variability, Prolinuria, Proteinuria, Status epilepticus, Stereotypy
LRIG1	LRIG1	1.259	1.5167E-181	Cell surface receptor	BrainSpLMD|26018	OMIM|608868
ZNRF3	ZNRF3	1.162	3.4722E-178	Ubiquitin proteasome system protein	Eurexp|euxassay_010435|vibrissa	OMIM|612062;COSMIC||colorectal cancer, adrenocortical carcinoma, gastric cancer
SOX6	SOX6	1.067	6.089E-177	Transcription factor	BrainSpLMD|55553;BrainSpMouseDev|20441	OMIM|607257
VAV3	VAV3	1.180	2.3065E-176	Guanine nucleotide exchange factor	BrainSpLMD|10451;Eurexp|euxassay_011323|bladder, calyces, cochlea, dorsal root ganglion, epithelium, facial VII, footplate, glossopharyngeal IX, handplate, incisor, larynx, liver, mantle layer, mesenchyme, midgut, molar, neural retina, olfactory, oral epithelium, pelvis, pharyngo-tympanic tube, rest of skin, stomach, submandibular gland primordium, thymus primordium, trigeminal V, ureter, utricle, vagus X, ventricle, vibrissa	OMIM|605541
SLC15A2	SLC15A2	1.057	4.6812E-175	Membrane transport protein	BrainSpLMD|6565	OMIM|602339
LINC00499	LINC00499	1.114	9.4827E-175			
WIF1	WIF1	1.154	2.8363E-173	Ligand	BrainSpLMD|11197;BrainSpMouseDev|23868	OMIM|605186;COSMIC||pleomorphic salivary gland adenoma
CHPT1	CHPT1	1.510	5.8845E-172	Enzyme: Phosphotransferase	BrainSpLMD|56994;Eurexp|euxassay_012600|midgut	OMIM|616747
NCAN	NCAN	1.431	1.144E-171	Extracellular matrix protein	BrainSpLMD|1463;Eurexp|euxassay_015922|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, intermediate grey horn, midbrain, neural retina, spinal cord, telencephalon, trigeminal V, ventral grey horn, vestibulocochlear VIII	OMIM|600826
CAMK2G	CAMK2G	1.478	1.1311E-167	Serine/threonine kinase	BrainSpLMD|818;Eurexp|euxassay_017931|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|602123
GABRA2	GABRA2	1.556	1.537E-167	Ion channel	BrainSpLMD|2555;Eurexp|euxassay_008366|mantle layer, marginal layer;BrainSpMouseDev|14171	OMIM|137140
MERTK	MERTK	1.024	4.1165E-165	Receptor tyrosine kinase	BrainSpLMD|10461;BrainSpMouseDev|17058	OMIM|604705;HPO|10461|Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Cataract, Conductive hearing impairment, Glaucoma, Hyperinsulinemia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Macular atrophy, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Peripheral retinal atrophy, Photophobia, Progressive night blindness, Progressive visual loss, Rod-cone dystrophy, Sensorineural hearing impairment, Wide nasal bridge
MALAT1	MALAT1	1.135	1.4389E-163		BrainSpLMD|378938	OMIM|607924;COSMIC||renal cell carcinoma (childhood epithelioid), lung
TTYH1	TTYH1	1.319	5.2221E-163	Ion channel	BrainSpLMD|57348;Eurexp|euxassay_018316|cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, pancreas, trigeminal V, vagus X, ventricular layer, vestibulocochlear VIII;BrainSpMouseDev|37048	OMIM|605784
GRAMD1C	GRAMD1C	1.183	6.4669E-163	Unclassified;Integral membrane protein	BrainSpLMD|54762;Eurexp|euxassay_005110|adenohypophysis, liver, olfactory, oral region, ventricular layer	
AHCYL1	AHCYL1	1.331	2.032E-161	Enzyme: Hydrolase	BrainSpLMD|10768	OMIM|607826
DOCK7	DOCK7	1.421	2.0323E-161	Guanine nucleotide exchange factor	BrainSpLMD|85440;Eurexp|euxassay_013589|epithelium, mantle layer, molar, oral epithelium, pharyngo-tympanic tube, stomach, vibrissa	OMIM|615730;HPO|85440|Abnormality of the pinna, Autosomal recessive inheritance, Broad nasal tip, Cortical visual impairment, Epileptic encephalopathy, Global developmental delay, Hypoplasia of the corpus callosum, Hypoplasia of the pons, Hypsarrhythmia, Infantile onset, Low anterior hairline, Narrow forehead, Periorbital fullness, Short philtrum, Telecanthus, Thick eyebrow, Thick vermilion border
MAML2	MAML2	1.532	2.0668E-161	Transcription regulatory protein	BrainSpLMD|84441	OMIM|607537;COSMIC||salivary gland mucoepidermoid
DCLK2	DCLK2	1.551	2.3664E-161	Serine/threonine kinase	BrainSpLMD|166614;Eurexp|euxassay_009796|associated mesenchyme, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, nasal cavity, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|613166
FUT9	FUT9	1.483	2.518E-161	Enzyme: Fucosyltransferase	BrainSpLMD|10690	OMIM|606865
RGMA	RGMA	1.097	4.8553E-161	Unclassified	BrainSpLMD|56963;Eurexp|euxassay_007168|dorsal grey horn, facial VII, footplate, handplate, mantle layer, marginal layer, pancreas, ventral grey horn, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII	OMIM|607362
CPE	CPE	1.494	2.7532E-160	Carboxypeptidase	BrainSpLMD|1363	OMIM|114855
EYA2	EYA2	1.023	4.7903E-160	Transcription regulatory protein;Tyrosine phosphatase	BrainSpLMD|2139;Eurexp|euxassay_000476|limb, nasal capsule, oesophagus, thymus primordium, vibrissa	OMIM|601654
FAM184A	FAM184A	1.346	1.8668E-159	Unclassified	BrainSpLMD|79632;Eurexp|euxassay_016295|mantle layer	
CRB1	CRB1	1.294	5.8299E-158	Unclassified	BrainSpLMD|23418	OMIM|604210;HPO|23418|Abnormal electroretinogram, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the optic disc, Abnormality of the retinal vasculature, Abnormality of the testis, Anteverted nares, Aplasia/Hypoplasia of the cerebellar vermis, Atypical scarring of skin, Autosomal recessive inheritance, Blindness, Bone spicule pigmentation of the retina, Cataract, Conductive hearing impairment, Encephalocele, Esotropia, Glaucoma, Hemiplegia/hemiparesis, High-grade hypermetropia, Hyperinsulinemia, Hypermetropia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Keratoconus, Muscular hypotonia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Paravenous chorioretinal atrophy, Pendular nystagmus, Photophobia, Progressive night blindness, Rod-cone dystrophy, Seizures, Sensorineural hearing impairment, Severe visual impairment, Undetectable electroretinogram, Visual impairment, Vitreoretinal degeneration, Wide nasal bridge
ZFHX4	ZFHX4	1.139	1.4666E-157	Transcription factor	BrainSpLMD|79776;Eurexp|euxassay_005820|epidermis, mantle layer, nasal septum, urethra;BrainSpMouseDev|56662	OMIM|606940;HPO|79776|Autosomal dominant inheritance, Congenital ptosis
MAST4	MAST4	1.508	6.424E-157	Unclassified	BrainSpLMD|375449;Eurexp|euxassay_011099|mantle layer, marginal layer, thymus primordium, ventral grey horn	
RHOJ	RHOJ	1.022	2.8452E-156	GTPase	BrainSpLMD|57381;Eurexp|euxassay_002084|alimentary system, cavities and their linings, gland, integumental system, limb, meninges, mesenchyme, renal/urinary system, reproductive system, respiratory system, tail, vertebral axis muscle system	OMIM|607653
ADD3	ADD3	1.377	5.6468E-154	Cytoskeletal associated protein	BrainSpLMD|120;Eurexp|euxassay_002919|chondrocranium, epithelium, glandular mucous membrane, lumen, mantle layer, pancreas, ventral grey horn, ventricular layer, vertebral axis muscle system	OMIM|601568;HPO|120|Abnormal pyramidal signs, Autosomal recessive inheritance, Cognitive impairment, Dysphagia, Exotropia, Global developmental delay, Infantile onset, Microcephaly, Nystagmus, Poor speech, Spastic diplegia, Spastic tetraplegia, Supranuclear gaze palsy, Variable expressivity
WWOX	WWOX	1.486	9.8298E-154	Enzyme: Oxidoreductase	BrainSpLMD|51741	SFARI||Autism, 3 - Suggestive evidence;OMIM|605131;HPO|51741|Abnormal sex determination, Abnormality of the labia, Abnormality of the scrotum, Abnormality of the voice, Ambiguous genitalia, Autosomal recessive inheritance, Azoospermia, Cerebellar atrophy, Chest pain, Clinodactyly of the 5th toe, Clitoral hypertrophy, Cough, Cryptorchidism, Decreased fertility in females, Decreased serum estradiol, Decreased testicular size, Decreased testosterone in males, Delayed puberty, Dysarthria, Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone level, Epileptic encephalopathy, Esophageal carcinoma, Feeding difficulties in infancy, Female external genitalia in individual with 46,XY karyotype, Gait ataxia, Gaze-evoked nystagmus, Global developmental delay, Gonadal dysgenesis, Gynecomastia, Hypergonadotropic hypogonadism, Hyperreflexia, Hypokinesia, Hypoplasia of the vagina, Hyporeflexia, Hypospadias, Intellectual disability, Limb ataxia, Male infertility, Microcephaly, Micropenis, Muscular hypotonia of the trunk, Nausea and vomiting, Osteoporosis, Primary amenorrhea, Progressive microcephaly, Rigidity, Seizures, Sparse axillary hair, Sparse pubic hair, Spasticity, Streak ovary, Urogenital sinus anomaly, Vanishing testis, Variable expressivity
RBMS3	RBMS3	1.374	1.8335E-152	RNA binding protein	BrainSpLMD|27303	SFARI||Autism, 5 - Hypothesized but untested;OMIM|605786
GPR37L1	GPR37L1	1.015	3.4673E-150	G protein coupled receptor	BrainSpLMD|9283;BrainSpMouseDev|82624	OMIM|617630
LIFR	LIFR	1.243	6.2434E-146	Cytokine receptor	BrainSpLMD|3977;Eurexp|euxassay_010649|axial muscle, dorsal root ganglion, extrinsic ocular muscle, facial VII, glossopharyngeal IX, mandible, mantle layer, maxilla, orbito-sphenoid, thymus primordium, thyroid, tongue, trigeminal V, vagus X, ventral grey horn, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|16651	OMIM|151443;COSMIC||salivary adenoma;HPO|3977|Abnormal metaphyseal trabeculation, Abnormality of dental enamel, Abnormality of vision, Absent patellar reflexes, Adducted thumb, Apnea, Asthma, Autosomal recessive inheritance, Blotching pigmentation of the skin, Broad ischia, Camptodactyly of finger, Contracture of the proximal interphalangeal joint of the 5th finger, Dysautonomia, Dysphagia, Elbow flexion contracture, Enlarged joints, Episodic fever, Feeding difficulties, Feeding difficulties in infancy, Femoral bowing, Flared metaphysis, Flexion contracture of toe, Frontal bossing, Generalized hypotonia, Genu valgum, Hoarse voice, Hyperhidrosis, Hypohidrosis, Hypoplastic iliac body, Impaired pain sensation, Intrauterine growth retardation, Knee flexion contracture, Lacrimation abnormality, Low-set ears, Malar flattening, Metaphyseal rarefaction, Metaphyseal widening, Micrognathia, Micromelia, Midface retrusion, Myotonia, Nasal speech, Oligohydramnios, Opacification of the corneal stroma, Osteopenia, Osteoporosis, Paresthesia, Pathologic fracture, Pulmonary arterial hypertension, Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia, Pursed lips, Recurrent fractures, Respiratory distress, Respiratory insufficiency, Scoliosis, Short neck, Short nose, Short palpebral fissure, Short phalanx of finger, Short stature, Short tibia, Single transverse palmar crease, Skeletal dysplasia, Smooth tongue, Square face, Talipes, Talipes equinovarus, Talipes valgus, Thickened cortex of long bones, Thin ribs, Thin skin, Tibial bowing, Trismus, Ulnar deviation of finger, Wide nasal base
LINC00461	LINC00461	1.443	1.0534E-144		Eurexp|euxassay_008007|marginal layer, ventricular layer	OMIM|616611
DLC1	DLC1	1.466	5.7364E-144	GTPase activating protein	BrainSpLMD|10395;Eurexp|euxassay_013403|axial skeleton, mandible, mantle layer, roof plate, trigeminal V, ventricular layer	OMIM|604258;HPO|10395|Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Transitional cell carcinoma of the bladder, Uterine leiomyosarcoma
KANK1	KANK1	1.242	1.9381E-142	Unclassified	BrainSpLMD|23189;Eurexp|euxassay_008605|alar columns, anterior, aorta, arytenoid, axial skeleton, basioccipital bone, basisphenoid bone, brain, cartilaginous ring, choroid invagination, choroid plexus, cortex, cricoid, epidermis, floor plate, floorplate, footplate, handplate, incisor, mandible, maxilla, mesenchyme, molar, naris, nasal septum, orbito-sphenoid, pelvic girdle, petrous part, rib, roof plate, skeletal muscle, spinal cord, sternum, stomach, submandibular gland primordium, thyroid, trabeculae carneae, turbinate bones, valve, ventricular layer, vibrissa	SFARI||Autism, No category;OMIM|607704;HPO|23189|Autosomal dominant inheritance with maternal imprinting, Cerebral atrophy, Cerebral palsy, Intellectual disability, Muscular hypotonia, Spastic tetraplegia, Ventriculomegaly
PCSK5	PCSK5	1.166	2.8217E-141	Serine protease	BrainSpLMD|5125	OMIM|600488
FOXO1	FOXO1	1.046	2.5306E-140	Transcription factor	BrainSpLMD|2308;Eurexp|euxassay_008976|vomeronasal organ;BrainSpMouseDev|35738	OMIM|136533;COSMIC||alveolar rhabdomyosarcoma;HPO|2308|Alveolar rhabdomyosarcoma, Autosomal recessive inheritance
LINC00511	LINC00511	1.222	1.5838E-138			
INTU	INTU	1.207	4.3041E-138	Unclassified	BrainSpLMD|27152	OMIM|610621
PRKCA	PRKCA	1.378	1.6585E-136	Serine/threonine kinase	BrainSpLMD|5578	OMIM|176960
EPHB1	EPHB1	1.269	4.7872E-136	Receptor tyrosine kinase	BrainSpLMD|2047;Eurexp|euxassay_018955|floorplate, mantle layer, marginal layer, mesenchyme, neural retina, ventricular layer;BrainSpMouseDev|92948	OMIM|600600
PDE7B	PDE7B	1.329	5.858E-136	Enzyme: Phosphodiesterase	BrainSpLMD|27115	OMIM|604645
FYN	FYN	1.322	1.4461E-135	Tyrosine kinase	BrainSpLMD|2534;BrainSpMouseDev|14136	OMIM|137025
MAP3K5	MAP3K5	1.369	1.4783E-135	Serine/threonine kinase	BrainSpLMD|4217;Eurexp|euxassay_018579|bladder, clavicle, lens, mantle layer, naris, olfactory, thymus primordium, thyroid, trigeminal V, vibrissa	OMIM|602448
CEP85L	CEP85L	1.325	4.9869E-135	Unclassified	BrainSpLMD|387119	
BMP2K	BMP2K	1.184	3.7956E-134	Serine/threonine kinase	BrainSpLMD|55589	OMIM|617648
DDAH1	DDAH1	1.307	1.1333E-132	Enzyme: Hydrolase	BrainSpLMD|23576;Eurexp|euxassay_003952|mantle layer, ventral grey horn, ventricular layer	OMIM|604743
CDHR3	CDHR3	1.103	8.8282E-132	Unclassified	BrainSpLMD|222256	OMIM|615610
BCL2	BCL2	1.190	3.1595E-131	Adapter molecule	BrainSpLMD|596;Eurexp|euxassay_006814|embryo;BrainSpMouseDev|11829	SFARI||Autism, 6 - Evidence does not support role;OMIM|151430;COSMIC||NHL, CLL;HPO|596|Fatigue, Fever, Lymphoma, Mediastinal lymphadenopathy, Night sweats, Splenomegaly, Weight loss
ASPH	ASPH	1.262	3.0131E-130	Enzyme: Hydroxylase	BrainSpLMD|444	OMIM|600582;HPO|444|Abnormal facial shape, Autosomal recessive inheritance, Convex nasal ridge, Dental malocclusion, Downslanted palpebral fissures, Ectopia lentis, Iris atrophy, Large beaked nose, Prominent nose, Retrognathia
RERG	RERG	1.075	7.0722E-129	GTPase	BrainSpLMD|85004;Eurexp|euxassay_004037|Meckel's cartilage, bladder, limb, olfactory	OMIM|612664
LRP4	LRP4	1.331	6.884E-128	Cell surface receptor	Eurexp|euxassay_011129|alar columns, epithelium, glomeruli, incisor, mantle layer, molar, olfactory, ventricular layer, vibrissa	OMIM|604270;HPO|4038|2-3 finger syndactyly, Abnormal cortical bone morphology, Abnormality of the nose, Autosomal dominant inheritance, Autosomal recessive inheritance, Congenital onset, Craniofacial hyperostosis, Curved distal phalanges of the hand, Cutaneous finger syndactyly, Diaphyseal thickening, Difficulty walking, Downslanted palpebral fissures, Facial palsy, Feeding difficulties, Fingernail dysplasia, Frontal bossing, Hearing impairment, Hypertelorism, Hypoplasia of the radius, Hypoplasia of the ulna, Hyporeflexia, Increased bone mineral density, Macrocephaly, Mandibular prognathia, Micrognathia, Nail dysplasia, Prominent forehead, Ptosis, Renal agenesis, Renal hypoplasia, Sensorineural hearing impairment, Short finger, Syndactyly, Tall stature
ADCY2	ADCY2	1.359	4.2823E-125	Adenylate cyclase	BrainSpLMD|108;BrainSpMouseDev|84170	OMIM|103071
RP11-679C8.2	RP11-679C8.2	1.006	3.4047E-123			
MED12L	MED12L	1.346	3.4281E-121	Unclassified	BrainSpLMD|116931	OMIM|611318
GPR75-ASB3	GPR75-ASB3	1.159	4.1758E-121		Eurexp|euxassay_000109|ventricular layer	
ESRRG	ESRRG	1.334	1.9594E-119	Nuclear receptor	BrainSpLMD|2104;BrainSpMouseDev|26129	OMIM|602969
LGR4	LGR4	1.026	9.0099E-119	G protein coupled receptor	BrainSpLMD|55366	OMIM|606666
MAPK4	MAPK4	1.138	2.6226E-117	Serine/threonine kinase	BrainSpLMD|5596	OMIM|176949
MKLN1	MKLN1	1.194	6.5181E-114	Adhesion molecule	BrainSpLMD|4289	OMIM|605623
ARHGAP5	ARHGAP5	1.215	2.8952E-113	GTPase activating protein	BrainSpLMD|394	OMIM|602680;COSMIC||colon cancer, glioma
TMEM161B-AS1	TMEM161B-AS1	1.297	6.8434E-113			
DNAH7	DNAH7	1.073	2.1433E-112	Motor protein	BrainSpLMD|56171;Eurexp|euxassay_014217|dorsal root ganglion, facial VII, forebrain, glossopharyngeal IX, hindbrain, midbrain, neural retina, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|610061
LGI1	LGI1	1.056	7.1027E-111	Unclassified	BrainSpLMD|9211;Eurexp|euxassay_008470|brain, diaphragm, neural retina, olfactory, skeletal muscle, spinal cord, vertebral axis muscle system	OMIM|604619;HPO|9211|Auditory auras, Autosomal dominant inheritance, Focal seizures with impairment of consciousness or awareness, Focal seizures without impairment of consciousness or awareness, Generalized tonic-clonic seizures with focal onset, Incomplete penetrance
ACSL6	ACSL6	1.137	1.462E-110	Enzyme: Synthase	BrainSpLMD|23305;Eurexp|euxassay_018903|diencephalon, dorsal root ganglion, facial VII, glossopharyngeal IX, hindbrain, mantle layer, marginal layer, midbrain, neural retina, olfactory, spinal cord, stroma, trigeminal V, vestibulocochlear VIII	OMIM|604443;COSMIC||AML, AEL
TOX	TOX	1.005	1.1121E-107	DNA binding protein	BrainSpLMD|9760;Eurexp|euxassay_006612|axial skeleton, cervical, cervico-thoracic, clavicle, cricoid, diencephalon, exoccipital bone, femur, hindbrain, inner ear, lip, lung, mandible, mantle layer, mesenchyme, metanephros, metatarsus, midbrain, nasal septum, neural retina, orbito-sphenoid, pelvic girdle, penis, phalanx, rib, scapula, stomach, telencephalon, thoracic, thymus primordium, thyroid, turbinate, vault of skull, vibrissa, vomeronasal organ;BrainSpMouseDev|89963	OMIM|606863
TRPM3	TRPM3	1.358	8.0015E-107	Ion channel	BrainSpLMD|80036	OMIM|608961
PDZRN3	PDZRN3	1.272	2.0251E-106	Unclassified	BrainSpLMD|23024;Eurexp|euxassay_000356|mantle layer	OMIM|609729
BCKDHB	BCKDHB	1.074	4.3349E-106	Enzyme: Decarboxylase	BrainSpLMD|594;Eurexp|euxassay_006740|embryo	OMIM|248611;HPO|594|Ataxia, Autosomal recessive inheritance, Cerebral edema, Coma, Elevated plasma branched chain amino acids, Feeding difficulties in infancy, Generalized hypotonia, Growth abnormality, Hallucinations, Hypertonia, Hypoglycemia, Intellectual disability, Ketosis, Lactic acidosis, Lethargy, Pancreatitis, Seizures, Vomiting
SERPINE2	SERPINE2	1.067	7.4608E-104	Protease inhibitor	BrainSpLMD|5270;Eurexp|euxassay_007870|axial skeleton, dorsal root ganglion, glossopharyngeal IX, incisor, lip, lung, mandible, mantle layer, marginal layer, maxilla, mesenchyme, metatarsus, nasal septum, penis, phalanx, skeletal muscle, sternum, thymus primordium, trigeminal V, turbinate bones, vagus X, ventral grey horn, ventricular layer, vibrissa	OMIM|177010
DGKG	DGKG	1.151	5.9875E-103	Enzyme: Phosphotransferase	BrainSpLMD|1608;Eurexp|euxassay_018135|vagus X	OMIM|601854
PRKD1	PRKD1	1.143	1.5748E-102	Serine/threonine kinase	BrainSpLMD|5587	SFARI||Autism, No category;OMIM|605435;HPO|5587|Autosomal dominant inheritance, Broad thumb, Delayed speech and language development, Depressed nasal bridge, Dry skin, Feeding difficulties, Fragile nails, Generalized hypotonia, Global developmental delay, Microcephaly, Microdontia, Nystagmus, Premature loss of primary teeth, Prominent forehead, Prominent nasal bridge, Scoliosis, Sparse scalp hair, Syndactyly, Thin skin, Widely spaced teeth
DOCK4	DOCK4	1.151	3.3056E-101	GTPase activating protein	BrainSpLMD|9732	SFARI||Autism, No category;OMIM|607679
NFIB	NFIB	1.145	1.8438E-100	Transcription factor	BrainSpLMD|4781;BrainSpMouseDev|17795	OMIM|600728;COSMIC||adenoid cystic carcinoma, lipoma
ARHGEF4	ARHGEF4	1.112	7.9287E-100	Guanine nucleotide exchange factor	BrainSpLMD|50649	OMIM|605216
FNBP1	FNBP1	1.076	1.56578E-96	Unclassified	BrainSpLMD|23048;Eurexp|euxassay_002195|bladder, diencephalon, dorsal root ganglion, hindbrain, midbrain, spinal cord, thymus primordium, trigeminal V, vestibulocochlear VIII	OMIM|606191;COSMIC||AML
QKI	QKI	1.018	1.67452E-92	RNA binding protein	BrainSpLMD|9444;Eurexp|euxassay_012259|diaphragm, dorsal grey horn, dorsal root ganglion, exoccipital bone, lens, lung, mandible, mantle layer, marginal layer, maxilla, meninges, midgut, neural retina, orbito-sphenoid, petrous part, skeletal muscle, stomach, submandibular gland primordium, turbinate, vault of skull, ventral grey horn, ventricle, ventricular layer, vertebral axis muscle system, vibrissa	OMIM|609590;COSMIC||angiocentric glioma, colorectal cancer
LPP	LPP	1.112	3.4442E-91	Unclassified	BrainSpLMD|4026	OMIM|600700;COSMIC||lipoma, leukaemia
PTCHD1-AS	PTCHD1-AS	1.123	8.85781E-91			
FAT3	FAT3	1.184	3.99838E-89	Integral membrane protein	Eurexp|euxassay_015982|axial muscle, clavicle, cortex, diaphragm, dorsal root ganglion, exoccipital bone, facial VII, femur, lip, mandible, mantle layer, maxilla, mesenchyme, metatarsus, orbito-sphenoid, pelvic girdle, phalanx, rib, saccule, skeletal muscle, sternum, thymus primordium, trigeminal V, urethra, vault of skull, ventricular layer, vibrissa;BrainSpMouseDev|92930	OMIM|612483;COSMIC||SCC, colon adenocarcinoma, gastric adenocarcinoma
RPS6KA2	RPS6KA2	1.090	3.66017E-88	Serine/threonine kinase	BrainSpLMD|6196;Eurexp|euxassay_010093|cervical, cervico-thoracic, cortex, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|601685
OLFM2	OLFM2	1.013	1.51321E-87	Unclassified	BrainSpLMD|93145;Eurexp|euxassay_002510|brain, glossopharyngeal IX, neural retina, orbito-sphenoid, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII	OMIM|617492
ITSN1	ITSN1	1.014	2.50574E-77	Adapter molecule	BrainSpLMD|6453;Eurexp|euxassay_003599|dorsal grey horn, marginal layer, ventricular layer;BrainSpMouseDev|16216	OMIM|602442
FAM171B	FAM171B	1.017	1.53111E-76	Integral membrane protein	BrainSpLMD|165215;Eurexp|euxassay_008581|dorsal root ganglion, glossopharyngeal IX, mantle layer, olfactory, trigeminal V, ventricular layer, vestibulocochlear VIII