id	symbol	fold_change	Violin Plot	P_value	reproducibility	genetic_association	Epilepsy_DEG_	_hprdClass	_expr	_geneLists
GPHN	GPHN	0.560	./vio/AST-PP/GPHN.png	2.9859E-06	no	yes	no	Anchor protein;Unclassified	BrainSpLMD|10243;Eurexp|euxassay_000272|marginal layer, ventral grey horn	SFARI||Autism, 3 - Suggestive evidence;OMIM|603930;COSMIC||AL;HPO|10243|Apnea, Aspiration, Autosomal dominant inheritance, Autosomal recessive inheritance, Exaggerated startle response, Feeding difficulties, Frequent falls, Generalized tonic-clonic seizures, Hip dislocation, Hyperreflexia, Hypertonia, Hypokinesia, Infantile onset, Inguinal hernia, Molybdenum cofactor deficiency, Muscular hypotonia of the trunk, Myoclonus, Polymicrogyria, Poor eye contact, Poor head control, Seizures, Spontaneous abortion, Umbilical hernia
CDH20	CDH20	0.496	./vio/AST-PP/CDH20.png	5.04359E-06	no	no	no	Adhesion molecule	BrainSpLMD|28316;BrainSpMouseDev|23589	OMIM|605807
TTYH1	TTYH1	-0.564	./vio/AST-PP/TTYH1.png	5.04359E-06	yes	no	no	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
CELF2	CELF2	0.547	./vio/AST-PP/CELF2.png	2.34515E-05	yes	no	no	RNA binding protein	BrainSpLMD|10659;Eurexp|euxassay_015501|brain, spinal cord	OMIM|602538
TMSB10	TMSB10	-0.287	./vio/AST-PP/TMSB10.png	4.72659E-05	yes	no	no	Cytoskeletal associated protein	BrainSpLMD|9168	OMIM|188399
GAPDH	GAPDH	-0.500	./vio/AST-PP/GAPDH.png	0.000105526	yes	no	no	Enzyme: Dehydrogenase		OMIM|138400
STMN1	STMN1	-0.216	./vio/AST-PP/STMN1.png	0.000105526	yes	no	no	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
FBXL7	FBXL7	0.479	./vio/AST-PP/FBXL7.png	0.000105526	no	no	no	Ubiquitin proteasome system protein	BrainSpLMD|23194	OMIM|605656
BCAN	BCAN	-0.412	./vio/AST-PP/BCAN.png	0.000150431	yes	no	no	Adhesion molecule	BrainSpLMD|63827;Eurexp|euxassay_018187|mantle layer, ventral grey horn, ventricular layer;BrainSpMouseDev|11818	OMIM|600347
CST3	CST3	-0.884	./vio/AST-PP/CST3.png	0.000239	yes	no	no	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
TMSB4X	TMSB4X	-0.728	./vio/AST-PP/TMSB4X.png	0.000242181	yes	no	no	Cytoskeletal associated protein		OMIM|300159
AFF1	AFF1	0.308	./vio/AST-PP/AFF1.png	0.000243133	no	no	no	Transcription factor	BrainSpLMD|4299	OMIM|159557;COSMIC||AL
CXCL14	CXCL14	-0.259	./vio/AST-PP/CXCL14.png	0.000633463	yes	no	no	Chemokine	BrainSpLMD|9547	OMIM|604186
PEBP1	PEBP1	-0.248	./vio/AST-PP/PEBP1.png	0.000647462	yes	no	no	Protease inhibitor	BrainSpLMD|5037	OMIM|604591
NGFRAP1	NGFRAP1	-0.213	./vio/AST-PP/NGFRAP1.png	0.000665509	yes	no	no			
MKLN1	MKLN1	0.491	./vio/AST-PP/MKLN1.png	0.000672832	yes	no	no	Adhesion molecule	BrainSpLMD|4289	OMIM|605623
MED12L	MED12L	0.413	./vio/AST-PP/MED12L.png	0.000693637	yes	no	no	Unclassified	BrainSpLMD|116931	OMIM|611318
ENO1	ENO1	-0.411	./vio/AST-PP/ENO1.png	0.000716935	yes	no	no	Enzyme: Hydratase	BrainSpLMD|2023	OMIM|172430
SOX5	SOX5	0.356	./vio/AST-PP/SOX5.png	0.001056706	yes	yes	no	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
CHCHD2	CHCHD2	-0.297	./vio/AST-PP/CHCHD2.png	0.001149971	yes	no	no	Unclassified	BrainSpLMD|51142;Eurexp|euxassay_002441|diaphragm, head mesenchyme, tongue, ventricle, vertebral axis muscle system	OMIM|616244
P4HA1	P4HA1	0.222	./vio/AST-PP/P4HA1.png	0.001433558	no	no	no	Enzyme: Hydroxylase	BrainSpLMD|5033;Eurexp|euxassay_000584|Meckel's cartilage, axial skeleton, chondrocranium, incisor, limb, molar, nasal capsule, pectoral girdle and thoracic body wall	OMIM|176710
CH17-472G23.2	CH17-472G23.2	0.463	./vio/AST-PP/CH17-472G23.2.png	0.001607611	yes	no	no			
CADM1	CADM1	0.434	./vio/AST-PP/CADM1.png	0.001650225	yes	yes	no	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
SAT2	SAT2	-0.253	./vio/AST-PP/SAT2.png	0.001973293	yes	no	no	Enzyme: Acyltransferase	BrainSpLMD|112483	OMIM|611463
PTN	PTN	-0.375	./vio/AST-PP/PTN.png	0.002256553	yes	no	no	Cytokine	BrainSpLMD|5764	OMIM|162095
PCDH9	PCDH9	5.553	./vio/AST-PP/PCDH9.png	0.002256553	no	yes	no	Adhesion molecule	BrainSpLMD|5101;Eurexp|euxassay_014258|facial VII, mantle layer, ventricular layer, vertebral axis muscle system, vestibulocochlear VIII	SFARI||Autism, 4 - Minimal evidence;OMIM|603581
SKP1	SKP1	-0.218	./vio/AST-PP/SKP1.png	0.002382546	no	no	no	Ubiquitin proteasome system protein	BrainSpLMD|6500	OMIM|601434
CIRBP	CIRBP	-0.393	./vio/AST-PP/CIRBP.png	0.002541687	yes	no	yes	RNA binding protein	BrainSpLMD|1153	OMIM|602649
TUBB2A	TUBB2A	-0.209	./vio/AST-PP/TUBB2A.png	0.002995345	no	no	no		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
EDNRB	EDNRB	-0.356	./vio/AST-PP/EDNRB.png	0.003021461	no	no	no	G protein coupled receptor	BrainSpLMD|1910;Eurexp|euxassay_002855|4th ventricle, bladder, choroid plexus, cochlear component, dorsal root ganglion, ductus deferens, facial VII, foregut-midgut junction, glossopharyngeal IX, heart, hindgut, inferior, intrinsic, lateral recess, loop, mantle layer, meninges, mesenchyme, midgut, oesophagus, rectum, stomach, superior, tail, tongue, trigeminal V, turbinate bones, urethra, ventral grey horn, ventricle, ventricular layer, vertebral axis muscle system, vestibular component, vestibulocochlear VIII;BrainSpMouseDev|13396	OMIM|131244;HPO|1910|Abdominal pain, Abnormal auditory evoked potentials, Abnormal macular morphology, Abnormality of vision, Aganglionic megacolon, Albinism, Ataxia, Autonomic dysregulation, Autosomal dominant inheritance, Autosomal recessive inheritance, Blue irides, Constipation, Global developmental delay, Hearing impairment, Heterochromia iridis, Heterogeneous, Hypopigmentation of the fundus, Hypopigmented skin patches, Intestinal obstruction, Large for gestational age, Leukodystrophy, Muscular hypotonia, Nausea and vomiting, Nystagmus, Olfactory lobe agenesis, Polyneuropathy, Premature graying of hair, Prominent nasal bridge, Sensorineural hearing impairment, Spastic paraparesis, Synophrys, Underdeveloped nasal alae, Weight loss, White eyebrow, White eyelashes, White forelock, Wide nasal bridge
EFNA5	EFNA5	0.307	./vio/AST-PP/EFNA5.png	0.003710331	no	no	no	Ligand	BrainSpLMD|1946;BrainSpMouseDev|13418	OMIM|601535
SLC7A10	SLC7A10	-0.258	./vio/AST-PP/SLC7A10.png	0.00427238	no	no	no	Membrane transport protein	BrainSpLMD|56301;Eurexp|euxassay_006170|choroid invagination, choroid plexus, mantle layer, marginal layer, mesenchyme, naris, roof plate, ventricular layer	OMIM|607959
PARD3	PARD3	0.705	./vio/AST-PP/PARD3.png	0.004280499	yes	no	no	Adapter molecule	BrainSpLMD|56288;BrainSpMouseDev|60394	OMIM|606745
NFAT5	NFAT5	0.306	./vio/AST-PP/NFAT5.png	0.004525496	no	no	no	Transcription factor	BrainSpLMD|10725;BrainSpMouseDev|33737	OMIM|604708
CAMK2G	CAMK2G	-0.410	./vio/AST-PP/CAMK2G.png	0.004525496	no	no	no	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
TOM1L2	TOM1L2	-0.351	./vio/AST-PP/TOM1L2.png	0.004525496	no	no	no	Transport/cargo protein	BrainSpLMD|146691	OMIM|615519
RIN2	RIN2	0.343	./vio/AST-PP/RIN2.png	0.004706553	no	no	no	Guanine nucleotide exchange factor	BrainSpLMD|54453	OMIM|610222;HPO|54453|Abnormality of the sternum, Alopecia, Autosomal recessive inheritance, Bruising susceptibility, Coarse facial features, Cognitive impairment, Cutis laxa, Decreased body weight, Downslanted palpebral fissures, Eclabion, Gingival overgrowth, High palate, High pitched voice, Hirsutism, Hyperextensible skin, Infra-orbital fold, Irregular dentition, Joint hypermobility, Long philtrum, Muscular hypotonia, Palpebral edema, Pes planus, Prolonged bleeding time, Redundant skin, Scoliosis, Short stature, Sparse and thin eyebrow, Sparse hair, Sparse scalp hair, Thick lower lip vermilion, Umbilical hernia, Upper eyelid edema
ZBTB20	ZBTB20	0.271	./vio/AST-PP/ZBTB20.png	0.004706553	no	yes	no	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
STON2	STON2	0.318	./vio/AST-PP/STON2.png	0.005049502	no	no	no	Unclassified	BrainSpLMD|85439	OMIM|608467
RAB11A	RAB11A	0.242	./vio/AST-PP/RAB11A.png	0.005377825	no	no	no	GTPase	BrainSpLMD|8766	OMIM|605570
ZSWIM6	ZSWIM6	0.465	./vio/AST-PP/ZSWIM6.png	0.005461547	no	no	no		Eurexp|euxassay_012565|mandible, mantle layer, maxilla	OMIM|615951;HPO|57688|Agenesis of corpus callosum, Autosomal dominant inheritance, Bifid nose, Brachycephaly, Broad nasal tip, Choroid plexus cyst, Cleft palate, Cleft upper lip, Encephalocele, Hypertelorism, Hypoplasia of the corpus callosum, Intellectual disability, Large sella turcica, Meningocele, Preaxial polydactyly, Retrocerebellar cyst, Seizures, Syndactyly, Talipes equinovarus, Telecanthus, Thick nail, Thick nasal alae, Ventriculomegaly
LRP1	LRP1	-0.301	./vio/AST-PP/LRP1.png	0.005565124	no	no	no	Cell surface receptor	BrainSpLMD|4035;Eurexp|euxassay_011128|mesenchyme, ventricular layer;BrainSpMouseDev|16741	OMIM|107770;HPO|4035|Autosomal recessive inheritance
KCNJ10	KCNJ10	-0.299	./vio/AST-PP/KCNJ10.png	0.005839175	no	yes	no	Inward rectifier channel	BrainSpLMD|3766;Eurexp|euxassay_011023|ventricular layer	SFARI||Autism, 3 - Suggestive evidence;OMIM|602208;HPO|3766|Abnormality of metabolism/homeostasis, Abnormality of the mitochondrion, Abnormality of the renal tubule, Ataxia, Autosomal recessive inheritance, Cerebellar atrophy, Cochlear malformation, Compensated hypothyroidism, Congenital sensorineural hearing impairment, Delayed speech and language development, Dysdiadochokinesis, Enlarged vestibular aqueduct, Enuresis, Failure to thrive, Generalized hypotonia, Global developmental delay, Goiter, Hyperaldosteronism, Hypocalciuria, Hypokalemia, Hypokalemic metabolic alkalosis, Hypomagnesemia, Hypoplasia of the cochlea, Hypothyroidism, Increased circulating renin level, Infantile onset, Intellectual disability, Intellectual disability, moderate, Intention tremor, Muscular hypotonia, Polydipsia, Polyuria, Renal potassium wasting, Renal salt wasting, Renal sodium wasting, Salt craving, Seizures, Sensorineural hearing impairment, Thyroid carcinoma, Vestibular dysfunction
TRIM9	TRIM9	0.337	./vio/AST-PP/TRIM9.png	0.00629152	no	no	no	Unclassified	BrainSpLMD|114088;Eurexp|euxassay_010509|mantle layer, molar, ventricular layer	OMIM|606555
TECPR2	TECPR2	-0.297	./vio/AST-PP/TECPR2.png	0.006542769	yes	no	no	Unclassified	BrainSpLMD|9895;Eurexp|euxassay_011252|olfactory	OMIM|615000;HPO|9895|Areflexia, Autosomal recessive inheritance, Brachycephaly, Broad neck, Central apnea, Cerebral atrophy, Dental crowding, Dysarthria, Dysmetria, Gait ataxia, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hypomimic face, Hypoplasia of the corpus callosum, Low anterior hairline, Microcephaly, Round face, Short neck, Short stature, Spastic gait, Spastic paraplegia
NFE2L2	NFE2L2	0.219	./vio/AST-PP/NFE2L2.png	0.006961726	no	no	no	Transcription factor	BrainSpLMD|4780;Eurexp|euxassay_018087|larynx, midgut, rectum, stomach, submandibular gland primordium, thyroid, trachea;BrainSpMouseDev|17791	OMIM|600492;COSMIC||NSCLC, HNSCC
DOCK4	DOCK4	0.345	./vio/AST-PP/DOCK4.png	0.007511082	yes	yes	no	GTPase activating protein	BrainSpLMD|9732	SFARI||Autism, No category;OMIM|607679
CDC37	CDC37	-0.221	./vio/AST-PP/CDC37.png	0.007653082	yes	no	no	Chaperone	BrainSpLMD|11140	OMIM|605065
TRPS1	TRPS1	0.404	./vio/AST-PP/TRPS1.png	0.007753359	no	no	no	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
AC016831.7	AC016831.7	0.301	./vio/AST-PP/AC016831.7.png	0.007753359	yes	no	no			
PCSK5	PCSK5	0.253	./vio/AST-PP/PCSK5.png	0.007786425	yes	no	no	Serine protease	BrainSpLMD|5125	OMIM|600488
NFIA	NFIA	0.308	./vio/AST-PP/NFIA.png	0.008538112	no	yes	no	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
MSMO1	MSMO1	-0.387	./vio/AST-PP/MSMO1.png	0.008754935	yes	no	no	Unclassified	BrainSpLMD|6307;Eurexp|euxassay_000744|Meckel's cartilage, adrenal gland, calyces, chondrocranium, dorsal root ganglion, facial VII, foregut-midgut junction, hindgut, incisor, inferior, lobe, mesenchyme, midgut, molar, olfactory, stomach, superior, testis, trigeminal V, vagus X, ventricular layer, vibrissa	OMIM|607545;HPO|6307|Arthralgia, Autosomal recessive inheritance, Blepharitis, Congenital cataract, Decreased circulating low-density lipoprotein levels, Delayed puberty, Delayed skeletal maturation, Failure to thrive, Global developmental delay, Hypocholesterolemia, Ichthyosis, Intellectual disability, mild, Microcephaly, Psoriasiform dermatitis, Short stature
LRIG1	LRIG1	-0.289	./vio/AST-PP/LRIG1.png	0.009260602	no	no	no	Cell surface receptor	BrainSpLMD|26018	OMIM|608868
RASSF8	RASSF8	0.244	./vio/AST-PP/RASSF8.png	0.009491076	no	no	no	Unclassified	BrainSpLMD|11228;Eurexp|euxassay_008525|mantle layer	OMIM|608231
TMEM184B	TMEM184B	-0.321	./vio/AST-PP/TMEM184B.png	0.009829179	no	no	no	Unclassified	BrainSpLMD|25829	
TMTC2	TMTC2	0.348	./vio/AST-PP/TMTC2.png	0.010396816	no	no	no	Integral membrane protein	BrainSpLMD|160335;Eurexp|euxassay_011308|axial skeleton, bladder, brain, capsule, clavicle, cornea, diaphragm, dorsal root ganglion, epithelium, facial VII, footplate, glossopharyngeal IX, handplate, hindgut, mandible, maxilla, midgut, oesophagus, olfactory, paraxial mesenchyme, pelvis, rest of mesenchyme, retina, rib, skeletal muscle, spinal cord, stomach, tibia, trigeminal V, ureter, vagus X, valve, vertebral axis muscle system, vestibulocochlear VIII, vibrissa	OMIM|615856
TMEM161B-AS1	TMEM161B-AS1	0.454	./vio/AST-PP/TMEM161B-AS1.png	0.010494777	no	no	no			
LINC-PINT	LINC-PINT	0.266	./vio/AST-PP/LINC-PINT.png	0.010517943	no	no	no			
ARHGAP31	ARHGAP31	0.321	./vio/AST-PP/ARHGAP31.png	0.011016981	no	no	no			OMIM|610911;HPO|57514|Abnormal pulmonary valve morphology, Abnormality of the metacarpal bones, Absent hand, Absent toe, Alopecia, Aortic valve stenosis, Aplasia cutis congenita, Aplasia cutis congenita on trunk or limbs, Aplasia cutis congenita over posterior parietal area, Atrial septal defect, Autosomal dominant inheritance, Bicuspid aortic valve, Brachydactyly, Calvarial skull defect, Cataract, Cleft palate, Cleft upper lip, Cortical dysplasia, Cutis marmorata, Encephalocele, Esotropia, Failure to thrive, Finger syndactyly, Generalized hypotonia, Global developmental delay, Hydrocephalus, Hypoplasia of the corpus callosum, Hypoplastic left heart, Imperforate hymen, Intellectual disability, Microcephaly, Microphthalmia, Pachygyria, Periventricular leukomalacia, Phenotypic variability, Polymicrogyria, Pulmonary arterial hypertension, Pulmonary artery atresia, Pulmonary artery stenosis, Pulmonic stenosis, Seizures, Short distal phalanx of finger, Small nail, Sparse hair, Split hand, Strabismus, Supernumerary nipple, Talipes, Talipes equinovarus, Tetralogy of Fallot, Toe syndactyly, Ventricular septal defect, Ventriculomegaly
SON	SON	-0.438	./vio/AST-PP/SON.png	0.011016981	no	no	no	Transcription factor	BrainSpLMD|6651;Eurexp|euxassay_007178|adrenal gland, cervical, cervico-thoracic, dorsal root ganglion, floorplate, glossopharyngeal IX, heart, mantle layer, medulla oblongata, metencephalon, oesophagus, olfactory lobe, thoracic, trigeminal V, vagus X, ventricular layer	OMIM|182465;HPO|6651|Abnormality of the dentition, Abnormality of the ribs, Arachnoid cyst, Autosomal dominant inheritance, Cerebellar hypoplasia, Cleft palate, Cortical visual impairment, Craniosynostosis, Deeply set eye, Depressed nasal bridge, Developmental regression, Downslanted palpebral fissures, Facial asymmetry, Failure to thrive, Feeding difficulties, Flexion contracture, Frontal bossing, Generalized hypotonia, Global developmental delay, Hemivertebrae, High palate, Horseshoe kidney, Hypermetropia, Hypoplasia of the corpus callosum, Intellectual disability, Joint hypermobility, Kyphosis, Low-set ears, Narrow mouth, Optic atrophy, Scoliosis, Short foot, Short philtrum, Short stature, Small hand, Strabismus, Thin upper lip vermilion, Ventriculomegaly, Wide nasal bridge
NDRG2	NDRG2	-0.454	./vio/AST-PP/NDRG2.png	0.011680951	no	no	no	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
TUBA1A	TUBA1A	-0.202	./vio/AST-PP/TUBA1A.png	0.011689776	no	no	no	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
NEO1	NEO1	0.290	./vio/AST-PP/NEO1.png	0.011744031	no	no	no	Cell surface receptor	BrainSpLMD|4756;Eurexp|euxassay_018461|axial skeleton, diaphragm, interdigital region between digits 1 and 2, interdigital region between digits 2 and 3, interdigital region between digits 3 and 4, interdigital region between digits 4 and 5, lung, mandible, mantle layer, marginal layer, maxilla, nasal septum, pericardial cavity, turbinate bones, ventral grey horn, ventricular layer, vestibulocochlear VIII, vibrissa;BrainSpMouseDev|17774	SFARI||Autism, 4 - Minimal evidence;OMIM|601907
HINT1	HINT1	-0.204	./vio/AST-PP/HINT1.png	0.011780263	no	no	no	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
NOTCH1	NOTCH1	-0.204	./vio/AST-PP/NOTCH1.png	0.012132367	no	no	no	Cell surface receptor	BrainSpLMD|4851;Eurexp|euxassay_018738|cochlea, cornea, cortex, epidermis, epithelium, incisor, left lung, molar, olfactory, rest of skin, retina, right lung, submandibular gland primordium, thymus primordium, utricle, ventricular layer, vibrissa, vomeronasal organ;BrainSpMouseDev|17895	OMIM|190198;COSMIC||T-ALL, breast, bladder, skin SCC, lung SCC, head and neck SCC;HPO|4851|Abnormal pulmonary valve morphology, Abnormality of the metacarpal bones, Absent hand, Absent toe, Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis, Aplasia cutis congenita, Autosomal dominant inheritance, Bicuspid aortic valve, Brachydactyly, Calvarial skull defect, Cataract, Cavernous hemangioma, Coarctation of aorta, Cutis marmorata, Cutis marmorata telangiectatica congenita, Dilatation of the aortic arch, Dystrophic toenail, Failure to thrive, Finger syndactyly, Heart murmur, Hydrocephalus, Hypertension, Microphthalmia, Phenotypic variability, Pulmonary arterial hypertension, Pulmonary artery atresia, Pulmonic stenosis, Right ventricular hypertrophy, Short distal phalanx of finger, Sparse hair, Split hand, Strabismus, Syndactyly, Talipes, Tetralogy of Fallot, Thoracic aorta calcification
ATP5A1	ATP5A1	-0.225	./vio/AST-PP/ATP5A1.png	0.012132367	no	no	no			
PDE4DIP	PDE4DIP	0.332	./vio/AST-PP/PDE4DIP.png	0.012132367	no	no	no	Transport/cargo protein	BrainSpLMD|9659;Eurexp|euxassay_015920|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vestibulocochlear VIII	OMIM|608117;COSMIC||MPN
SH3RF1	SH3RF1	0.231	./vio/AST-PP/SH3RF1.png	0.012190704	no	no	no	Unclassified	BrainSpLMD|57630;Eurexp|euxassay_016453|mantle layer	
TCF4	TCF4	0.297	./vio/AST-PP/TCF4.png	0.012213385	no	yes	no	Transcription factor	BrainSpLMD|6925;BrainSpMouseDev|21174	SFARI||Autism, No category;OMIM|602272;HPO|6925|Abnormal large intestine physiology, Abnormality of the palate, Absent speech, Aggressive behavior, Anteverted nares, Aphasia, Ascites, Astigmatism, Ataxia, Autoimmunity, Autosomal dominant inheritance, Cirrhosis, Clinodactyly, Clubbing, Coarse facial features, Constipation, Cryptorchidism, Cupped ear, Deeply set eye, Dilated superficial abdominal veins, Dysautonomia, Dysphasia, Echolalia, Elevated alkaline phosphatase of hepatic origin, Elevated hepatic transaminases, Encephalopathy, Esophagitis, Failure of eruption of permanent teeth, Failure to thrive, Feeding difficulties, Fever, Full cheeks, Gait ataxia, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Growth delay, Hepatic fibrosis, Hepatomegaly, Hepatosplenomegaly, Hiatus hernia, Hypoplasia of the corpus callosum, Incoordination, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Intermittent hyperventilation, Microcephaly, Micropenis, Misalignment of teeth, Motor delay, Muscular hypotonia, Mutism, Myopia, Narrow foot, Narrow forehead, Open mouth, Palmar telangiectasia, Pes planus, Pes valgus, Portal hypertension, Seizures, Short neck, Short philtrum, Single transverse palmar crease, Sleep apnea, Specific learning disability, Spider hemangioma, Splenomegaly, Strabismus, Tapered finger, Thick vermilion border, Thickened helices, Ulcerative colitis, Upslanted palpebral fissure, Weight loss, Wide mouth, Wide nasal bridge, Widely spaced teeth
PDE9A	PDE9A	-0.225	./vio/AST-PP/PDE9A.png	0.012217076	no	no	no	Enzyme: Phosphodiesterase	BrainSpLMD|5152;Eurexp|euxassay_005191|bladder, brain, cervical, cervico-thoracic, dorsal root ganglion, epithelium, glossopharyngeal IX, incisor, limb, lung, mesenchyme, metanephros, midgut, molar, naris, olfactory, oral epithelium, rectum, retina, spinal cord, stomach, submandibular gland primordium, tail, trigeminal V, vestibulocochlear VIII	OMIM|602973
ARHGAP26	ARHGAP26	0.353	./vio/AST-PP/ARHGAP26.png	0.012429516	no	no	no	GTPase activating protein	BrainSpLMD|23092;Eurexp|euxassay_016565|mantle layer, olfactory	OMIM|605370;COSMIC||AML, MDS;HPO|23092|Autosomal dominant inheritance, Juvenile myelomonocytic leukemia, Somatic mutation
SACS	SACS	-0.238	./vio/AST-PP/SACS.png	0.012429516	no	no	no	Unclassified	BrainSpLMD|26278;Eurexp|euxassay_014163|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V, vagus X	OMIM|604490;HPO|26278|Absent Achilles reflex, Autosomal recessive inheritance, Babinski sign, Cerebellar vermis atrophy, Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers, Decreased sensory nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Dysarthria, Dysmetria, Falls, Hammertoe, Hypermyelinated retinal nerve fibers, Hyperreflexia, Impaired smooth pursuit, Impaired vibration sensation in the lower limbs, Infantile onset, Intellectual disability, Loss of Purkinje cells in the cerebellar vermis, Nystagmus, Pes cavus, Progressive gait ataxia, Progressive truncal ataxia, Scanning speech, Spastic ataxia, Spasticity, Swan neck-like deformities of the fingers, Urinary urgency
RPL19	RPL19	-0.234	./vio/AST-PP/RPL19.png	0.012697987	no	no	no	Ribosomal subunit	BrainSpLMD|6143	OMIM|180466
USP3	USP3	0.233	./vio/AST-PP/USP3.png	0.01294833	no	no	no	Ubiquitin proteasome system protein	BrainSpLMD|9960	OMIM|604728
NEAT1	NEAT1	0.664	./vio/AST-PP/NEAT1.png	0.013029915	no	no	no			OMIM|612769
TUBA1B	TUBA1B	-0.208	./vio/AST-PP/TUBA1B.png	0.013069959	no	no	no	Structural protein	BrainSpLMD|10376	OMIM|602530
PPIA	PPIA	-0.324	./vio/AST-PP/PPIA.png	0.013488792	no	no	no	Enzyme: Isomerase	BrainSpLMD|5478	OMIM|123840
RERE	RERE	0.339	./vio/AST-PP/RERE.png	0.0141461	no	yes	no	Transcription regulatory protein	BrainSpLMD|473;Eurexp|euxassay_005784|adenohypophysis, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, lung, metanephros, midgut, neural retina, spinal cord, stomach, thoracic, trigeminal V, vagus X, vibrissa;BrainSpMouseDev|44545	SFARI||Autism, 4 - Minimal evidence;OMIM|605226;HPO|473|Absent speech, Agenesis of corpus callosum, Anteverted nares, Autism, Autistic behavior, Autosomal dominant inheritance, Blepharophimosis, Brachycephaly, Brachydactyly, Broad eyebrow, Camptodactyly of finger, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Coloboma, Constipation, Cryptorchidism, Deeply set eye, Delayed cranial suture closure, Depressed nasal bridge, Depressed nasal ridge, Downslanted palpebral fissures, Dysarthria, Dysphagia, EEG abnormality, Epicanthus, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Frontal bossing, Gait disturbance, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, High-grade hypermetropia, Horizontal eyebrow, Hypoplasia of the corpus callosum, Hypospadias, Infantile onset, Intellectual disability, Intrauterine growth retardation, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Microphthalmia, Midface retrusion, Muscular hypotonia, Narrow mouth, Optic atrophy, Pointed chin, Poor speech, Posteriorly rotated ears, Seizures, Self-injurious behavior, Short foot, Short stature, Stereotypy, Strabismus, Ventricular septal defect, Ventriculomegaly, Vesicoureteral reflux, Wide nasal bridge
RSRP1	RSRP1	-0.208	./vio/AST-PP/RSRP1.png	0.014208292	no	no	no	Unclassified	BrainSpLMD|57035	
SH2B1	SH2B1	-0.207	./vio/AST-PP/SH2B1.png	0.014326748	no	no	no	Adapter molecule	BrainSpLMD|25970	OMIM|608937;HPO|25970|Aganglionic megacolon, Aggressive behavior, Arachnodactyly, Attention deficit hyperactivity disorder, Autism, Autistic behavior, Broad forehead, Chronic constipation, Chronic kidney disease, Delayed speech and language development, EEG abnormality, Global developmental delay, Hyperinsulinemia, Hyperuricemia, Intellectual disability, Language impairment, Low anterior hairline, Macrocephaly, Malar flattening, Moderate receptive language delay, Narrow mouth, Neonatal hypotonia, No social interaction, Obesity, Oval face, Polyphagia, Prominent nasal bridge, Proteinuria, Renal agenesis, Rod-cone dystrophy, Seizures, Short stature, Vesicoureteral reflux
MEF2C-AS1	MEF2C-AS1	0.353	./vio/AST-PP/MEF2C-AS1.png	0.014326748	no	no	no			
PTPN13	PTPN13	0.256	./vio/AST-PP/PTPN13.png	0.014707648	no	no	no	Tyrosine phosphatase	BrainSpLMD|5783	OMIM|600267;COSMIC||lung, NSCLC, gastric, peritoneal carcinomatosis, hepatocellular
PALLD	PALLD	0.225	./vio/AST-PP/PALLD.png	0.014804047	no	no	no	Unclassified	BrainSpLMD|23022	OMIM|608092
SASH1	SASH1	0.320	./vio/AST-PP/SASH1.png	0.014885761	no	no	no	Adapter molecule	BrainSpLMD|23328	OMIM|607955
MLLT3	MLLT3	0.250	./vio/AST-PP/MLLT3.png	0.015022431	no	no	no	Unclassified	BrainSpLMD|4300;Eurexp|euxassay_008130|adrenal gland, brain, ear, epithelium, hindgut, incisor, inner ear, lobe, metatarsus, molar, penis, rectum, rib, spinal cord, submandibular gland primordium, vibrissa	OMIM|159558;COSMIC||ALL
CH17-472G23.1	CH17-472G23.1	0.288	./vio/AST-PP/CH17-472G23.1.png	0.015892614	no	no	no			
RTN4	RTN4	-0.282	./vio/AST-PP/RTN4.png	0.01592487	no	no	no	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
SEPT7	SEPT7	-0.234	./vio/AST-PP/SEPT7.png	0.015956316	no	no	no	Cell cycle control protein	BrainSpLMD|989	OMIM|603151
UBB	UBB	-0.253	./vio/AST-PP/UBB.png	0.016120088	no	no	no	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
LRP1B	LRP1B	0.376	./vio/AST-PP/LRP1B.png	0.016325776	no	no	no	Cell surface receptor	BrainSpLMD|53353;Eurexp|euxassay_013815|floor plate, floorplate, roof plate	OMIM|608766;COSMIC||CLL, ovarian cancer, oesophageal squamous cell carcinoma, urothelial cancer
ITM2B	ITM2B	-0.361	./vio/AST-PP/ITM2B.png	0.016543014	no	no	no	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
SARAF	SARAF	-0.207	./vio/AST-PP/SARAF.png	0.017913291	no	no	no	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
SNAP25	SNAP25	-0.304	./vio/AST-PP/SNAP25.png	0.017927539	no	yes	no	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
DTX1	DTX1	-0.232	./vio/AST-PP/DTX1.png	0.01824333	yes	no	no	Transcription regulatory protein	BrainSpLMD|1840;BrainSpMouseDev|14133	OMIM|602582
KAZN	KAZN	-0.240	./vio/AST-PP/KAZN.png	0.019414149	no	no	no	Unclassified	BrainSpLMD|23254	
AP3B1	AP3B1	0.221	./vio/AST-PP/AP3B1.png	0.019616473	no	no	no	Adapter molecule	BrainSpLMD|8546	OMIM|603401;HPO|8546|Aberrant melanosome maturation, Acetabular dysplasia, Albinism, Autosomal recessive inheritance, Carious teeth, Coarse facial features, Congenital onset, Fair hair, Hepatomegaly, Hip dysplasia, Intellectual disability, mild, Long philtrum, Low-set ears, Microcephaly, Motor delay, Neutropenia, Nystagmus, Ocular albinism, Periodontitis, Photophobia, Posteriorly rotated ears, Pulmonary fibrosis, Recurrent bacterial infections, Reduced visual acuity, Smooth philtrum, Splenomegaly, Strabismus, Thin upper lip vermilion, Thrombocytopenia, Upslanted palpebral fissure, Visual impairment, Wide nasal bridge
NPAS3	NPAS3	0.225	./vio/AST-PP/NPAS3.png	0.019616473	no	no	no	Transcription factor	BrainSpLMD|64067;Eurexp|euxassay_009424|mantle layer, ventral grey horn, ventricular layer;BrainSpMouseDev|27131	OMIM|609430
RP11-166D19.1	RP11-166D19.1	0.313	./vio/AST-PP/RP11-166D19.1.png	0.019963101	no	no	no			
AK4	AK4	-0.220	./vio/AST-PP/AK4.png	0.020548	no	no	no	Enzyme: Phosphotransferase	BrainSpLMD|205;Eurexp|euxassay_010883|clavicle, hindgut, incisor, midgut, molar, olfactory, rectum, stomach	OMIM|103030
ITM2C	ITM2C	-0.424	./vio/AST-PP/ITM2C.png	0.021541141	no	no	no	Integral membrane protein	BrainSpLMD|81618	OMIM|609554
PAX6	PAX6	0.222	./vio/AST-PP/PAX6.png	0.022489943	no	yes	no	Transcription factor	BrainSpLMD|5080;BrainSpMouseDev|18274	SFARI||Autism, No category;OMIM|607108;HPO|5080|Abnormal best corrected visual acuity test, Abnormality of movement, Abnormality of retinal pigmentation, Abnormality of the optic disc, Abnormality of the vagina, Abnormality of vision, Amblyopia, Aniridia, Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia of the macula, Ataxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Cataract, Cerebellar hypoplasia, Chorioretinal coloboma, Congenital glaucoma, Congenital nystagmus, Contiguous gene syndrome, Corneal opacity, Cryptorchidism, Displacement of the external urethral meatus, EEG abnormality, Everted lower lip vermilion, Generalized hyperpigmentation, Glaucoma, Global developmental delay, Hearing abnormality, Hypoplasia of the corpus callosum, Hypoplasia of the fovea, Hypoplasia of the iris, Hypospadias, Intellectual disability, Keratitis, Mask-like facies, Microcephaly, Micrognathia, Motor delay, Muscular hypotonia, Nephroblastoma, Nystagmus, Opacification of the corneal stroma, Optic atrophy, Optic disc hypoplasia, Optic nerve aplasia, Optic nerve coloboma, Optic nerve hypoplasia, Peripheral vitreous opacities, Peters anomaly, Postural tremor, Presenile cataracts, Pseudopapilledema, Ptosis, Reduced visual acuity, Retinal detachment, Scanning speech, Short stature, Slurred speech, Somatic mutation, Strabismus, Streak ovary, Visual impairment, Visual loss
FOXO3	FOXO3	0.256	./vio/AST-PP/FOXO3.png	0.022848628	no	no	no	Transcription factor	BrainSpLMD|2309;Eurexp|euxassay_019517|hindgut, liver, lung, midgut, stomach, submandibular gland primordium, thymus primordium, vibrissa;BrainSpMouseDev|35764	OMIM|602681;COSMIC||AL
CACHD1	CACHD1	0.376	./vio/AST-PP/CACHD1.png	0.02309429	no	no	no	Voltage gated channel	BrainSpLMD|57685;Eurexp|euxassay_006310|incisor, lung, mantle layer, molar, naris, penis, ventricular layer	
SRGAP3	SRGAP3	-0.332	./vio/AST-PP/SRGAP3.png	0.023126489	no	yes	no	GTPase activating protein	BrainSpLMD|9901	SFARI||Autism, 4 - Minimal evidence;OMIM|606525;COSMIC||pilocytic astrocytoma
NOVA1	NOVA1	0.317	./vio/AST-PP/NOVA1.png	0.023393256	no	no	no	RNA binding protein	BrainSpLMD|4857	OMIM|602157
CNTFR	CNTFR	-0.207	./vio/AST-PP/CNTFR.png	0.023438684	no	no	no	Cell surface receptor	BrainSpLMD|1271	OMIM|118946
CALR	CALR	-0.215	./vio/AST-PP/CALR.png	0.0241573	no	no	no	Chaperone	BrainSpLMD|811	OMIM|109091;COSMIC||MPN, MDS;HPO|811|Abnormal platelet morphology, Abnormality of the skeletal system, Acrocyanosis, Amaurosis fugax, Arterial thrombosis, Autosomal dominant inheritance, Chest pain, Hypertension, Impaired platelet aggregation, Increased megakaryocyte count, Myelofibrosis, Myeloproliferative disorder, Myocardial infarction, Paresthesia, Prolonged bleeding time, Somatic mutation, Splenomegaly, Thrombocytosis, Transient ischemic attack, Venous thrombosis
PAQR6	PAQR6	-0.321	./vio/AST-PP/PAQR6.png	0.024250716	no	no	no	Integral membrane protein	BrainSpLMD|79957;Eurexp|euxassay_001862|lung, pancreas, pharyngo-tympanic tube, stomach, urethra, ventricular layer, vibrissa	OMIM|614579
PPP6R3	PPP6R3	0.269	./vio/AST-PP/PPP6R3.png	0.024280156	no	no	no	Unclassified	BrainSpLMD|55291	OMIM|610879
WDFY3	WDFY3	0.209	./vio/AST-PP/WDFY3.png	0.02532037	no	yes	no	Unclassified	BrainSpLMD|23001;Eurexp|euxassay_010172|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	SFARI||Autism, 2 - Strong candidate;OMIM|617485
APC2	APC2	-0.277	./vio/AST-PP/APC2.png	0.025922655	no	no	no	Transcription regulatory protein	BrainSpLMD|10297;Eurexp|euxassay_007719|Meckel's cartilage, axial skeleton, brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, femur, fibula, glossopharyngeal IX, humerus, neural retina, rib, scapula, spinal cord, thoracic, tibia, trigeminal V, vagus X, vestibulocochlear VIII;BrainSpMouseDev|23558	OMIM|612034;HPO|10297|Abnormality of immune system physiology, Accelerated skeletal maturation, Advanced eruption of teeth, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Autosomal recessive inheritance, Conductive hearing impairment, Depressed nasal ridge, Dolichocephaly, Downslanted palpebral fissures, Feeding difficulties in infancy, Frontal bossing, Global developmental delay, High forehead, High palate, Hyperactivity, Hypertelorism, Hypoglycemia, Intellectual disability, Long face, Macrocephaly, Macrotia, Mandibular prognathia, Muscular hypotonia, Obesity, Poor speech, Precocious puberty, Prominent forehead, Prominent nose, Relative macrocephaly, Tall stature, Ventriculomegaly
DBI	DBI	-0.312	./vio/AST-PP/DBI.png	0.026423927	no	no	no	Ligand	BrainSpLMD|1622;BrainSpMouseDev|12947	OMIM|125950
NCAN	NCAN	-0.532	./vio/AST-PP/NCAN.png	0.027558795	no	no	no	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
DCLK1	DCLK1	-0.237	./vio/AST-PP/DCLK1.png	0.027573192	no	no	no	Serine/threonine kinase	BrainSpLMD|9201;Eurexp|euxassay_018536|floor plate, floorplate, mantle layer, ventral grey horn, ventricular layer	OMIM|604742
DLC1	DLC1	0.425	./vio/AST-PP/DLC1.png	0.028363012	no	no	no	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
ZNF148	ZNF148	0.244	./vio/AST-PP/ZNF148.png	0.02865378	no	no	no	Transcription factor	BrainSpLMD|7707	OMIM|601897;HPO|7707|Abnormality of the pinna, Agenesis of corpus callosum, Autosomal dominant inheritance, Coarctation of aorta, Coarse facial features, Downslanted palpebral fissures, Epicanthus, Feeding difficulties, Frontal bossing, Generalized hypotonia, Global developmental delay, Hypermetropia, Hypoplasia of the corpus callosum, Intellectual disability, Low hanging columella, Microcephaly, Mitral stenosis, Patent ductus arteriosus, Pes planus, Phenotypic variability, Pointed chin, Poor speech, Renal cyst, Renal dysplasia, Respiratory insufficiency, Short palpebral fissure, Short stature, Smooth philtrum, Talipes equinovarus, Telecanthus, Triangular face, Upslanted palpebral fissure, Ventriculomegaly, Wide mouth
ADCY2	ADCY2	0.342	./vio/AST-PP/ADCY2.png	0.028773063	no	no	no	Adenylate cyclase	BrainSpLMD|108;BrainSpMouseDev|84170	OMIM|103071
MYO6	MYO6	-0.290	./vio/AST-PP/MYO6.png	0.029061509	no	no	no	Motor protein	BrainSpLMD|4646	OMIM|600970;HPO|4646|Autosomal dominant inheritance, Autosomal recessive inheritance, Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment
LSS	LSS	-0.205	./vio/AST-PP/LSS.png	0.029502585	no	no	no	Enzyme: Mutase	BrainSpLMD|4047;Eurexp|euxassay_017872|cervical, cervico-thoracic, dorsal root ganglion, glossopharyngeal IX, incisor, lobe, mandible, mantle layer, molar, neural retina, thoracic, thymus primordium, trigeminal V, ventricular layer, vibrissa	OMIM|600909;HPO|4047|Autosomal recessive inheritance, Congenital cataract, Visual loss
ZDHHC21	ZDHHC21	0.202	./vio/AST-PP/ZDHHC21.png	0.030388946	no	no	no	Integral membrane protein	BrainSpLMD|340481	OMIM|614605
AZIN1-AS1	AZIN1-AS1	-0.288	./vio/AST-PP/AZIN1-AS1.png	0.031406179	no	no	no			
PHYHIPL	PHYHIPL	-0.205	./vio/AST-PP/PHYHIPL.png	0.031500298	no	no	no	Unclassified;Integral membrane protein	BrainSpLMD|84457;Eurexp|euxassay_002109|brain, dorsal root ganglion, neural retina, olfactory, spinal cord, stroma, trigeminal V, vagus X, vestibulocochlear VIII	
MPHOSPH8	MPHOSPH8	-0.239	./vio/AST-PP/MPHOSPH8.png	0.031841339	no	no	no	Cell cycle control protein	BrainSpLMD|54737	OMIM|611626
PNISR	PNISR	-0.236	./vio/AST-PP/PNISR.png	0.03266322	no	no	no	Unclassified	BrainSpLMD|25957;Eurexp|euxassay_011305|brain, dorsal root ganglion, facial VII, glossopharyngeal IX, metanephros, neural retina, olfactory, spinal cord, trigeminal V, vagus X, vestibulocochlear VIII, vomeronasal organ	OMIM|616653
HERC2	HERC2	-0.263	./vio/AST-PP/HERC2.png	0.032674845	no	yes	no	Ubiquitin proteasome system protein	BrainSpLMD|8924;Eurexp|euxassay_014975|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, spinal cord, trigeminal V, vestibulocochlear VIII	SFARI||Autism, No category;OMIM|605837;HPO|8924|Abdominal obesity, Aggressive behavior, Almond-shaped palpebral fissure, Attention deficit hyperactivity disorder, Autosomal recessive inheritance, Blue irides, Clinodactyly, Clitoral hypoplasia, Cutaneous photosensitivity, Decreased fetal movement, Decreased muscle mass, Delayed puberty, Delayed speech and language development, Dolichocephaly, Downturned corners of mouth, Failure to thrive in infancy, Generalized hypopigmentation, Generalized hypotonia, Global developmental delay, Growth hormone deficiency, Hyperactivity, Hyperinsulinemia, Hypermetropia, Hypogonadotrophic hypogonadism, Hypoplastic labia minora, Hypoventilation, Impaired pain sensation, Infantile onset, Infertility, Intellectual disability, Kyphosis, Mandibular prognathia, Micropenis, Motor delay, Narrow forehead, Narrow nasal bridge, Narrow palate, Narrow palm, Nasal speech, Obesity, Oligomenorrhea, Plagiocephaly, Polyphagia, Poor gross motor coordination, Poor suck, Recurrent respiratory infections, Sandal gap, Scoliosis, Self-mutilation, Short foot, Short palm, Short stature, Sleep apnea, Small hand, Specific learning disability, Sporadic, Strabismus, Thin upper lip vermilion, Unsteady gait, Ventriculomegaly
GNG7	GNG7	-0.323	./vio/AST-PP/GNG7.png	0.032939993	no	no	no	G protein	BrainSpLMD|2788;Eurexp|euxassay_002997|mantle layer, marginal layer	OMIM|604430
FDFT1	FDFT1	-0.328	./vio/AST-PP/FDFT1.png	0.033308676	no	no	no	Enzyme: Synthase	BrainSpLMD|2222;Eurexp|euxassay_005703|calyces, cerebral cortex, cervical, cervico-thoracic, cochlear component, dorsal root ganglion, epithelium, facial VII, foregut-midgut junction, glossopharyngeal IX, hindgut, incisor, inferior, inner ear, lens, loop, mantle layer, mesenteric artery, midgut, molar, nucleus pulposus, retina, skeleton, stomach, superior, tegmentum, thoracic, trigeminal V, vagus X, vestibular component, vestibulocochlear VIII, vibrissa	OMIM|184420
EIF5	EIF5	-0.279	./vio/AST-PP/EIF5.png	0.033322619	no	no	no	Translation regulatory protein;GTPase activating protein	BrainSpLMD|1983	OMIM|601710
SAMD4A	SAMD4A	0.352	./vio/AST-PP/SAMD4A.png	0.034264471	no	no	no	Unclassified	BrainSpLMD|23034	OMIM|610747
C1orf61	C1orf61	-0.389	./vio/AST-PP/C1orf61.png	0.034989695	no	no	no	Transcription regulatory protein	BrainSpLMD|10485	
RPL3P4	RPL3P4	-0.256	./vio/AST-PP/RPL3P4.png	0.035184033	no	no	no			
PIGN	PIGN	0.219	./vio/AST-PP/PIGN.png	0.035490235	no	no	no	Enzyme: Transferase	BrainSpLMD|23556	OMIM|606097;HPO|23556|Abnormality of the cardiac septa, Absent speech, Agenesis of corpus callosum, Amblyopia, Anal atresia, Anal stenosis, Anteverted nares, Aplasia/Hypoplasia of the nipples, Atrial septal defect, Autosomal recessive inheritance, Broad forehead, Cerebral atrophy, Cerebral cortical atrophy, Choreoathetosis, Cleft palate, Clinodactyly of the 5th finger, Coarse facial features, Congenital diaphragmatic hernia, Congenital onset, Corneal opacity, Cryptorchidism, Cupped ear, Depressed nasal bridge, Epicanthus, Frontal bossing, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, High palate, Hydrocele testis, Hydronephrosis, Hyperreflexia, Hypertelorism, Hypoplastic fingernail, Hyporeflexia, Intellectual disability, Large fleshy ears, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Median cleft lip, Micrognathia, Multicystic kidney dysplasia, Narrow forehead, Non-midline cleft lip, Nystagmus, Open mouth, Overfolded helix, Patent ductus arteriosus, Polyhydramnios, Posteriorly rotated ears, Pulmonary hypoplasia, Seizures, Severe global developmental delay, Short distal phalanx of finger, Short neck, Short nose, Spasticity, Tented upper lip vermilion, Tetralogy of Fallot, Thickened nuchal skin fold, Thin vermilion border, Tremor, Variable expressivity, Wide intermamillary distance, Wide mouth, Wide nasal bridge
SEMA5A	SEMA5A	-0.263	./vio/AST-PP/SEMA5A.png	0.03605124	no	yes	no	Unclassified	BrainSpLMD|9037;BrainSpMouseDev|20119	SFARI||Autism, 3 - Suggestive evidence;OMIM|609297;HPO|9037|Cat cry, Downslanted palpebral fissures, Epicanthus, High palate, High pitched voice, Hypertelorism, Intellectual disability, severe, Intrauterine growth retardation, Low-set, posteriorly rotated ears, Microcephaly, Microretrognathia, Muscular hypotonia, Round face, Scoliosis, Severe global developmental delay, Short neck, Short stature, Small hand, Wide nasal bridge
SLC6A1	SLC6A1	-0.336	./vio/AST-PP/SLC6A1.png	0.036383939	no	yes	yes	Membrane transport protein	BrainSpLMD|6529;Eurexp|euxassay_018302|brain, glossopharyngeal IX, marginal layer, neural retina, spinal cord, vestibulocochlear VIII;BrainSpMouseDev|87401	SFARI||Autism, 2 - Strong candidate;OMIM|137165;HPO|6529|Abnormal brain FDG positron emission tomography, Absence seizures, Ataxia, Atonic seizures, Autosomal dominant inheritance, Developmental regression, Dysarthria, EEG with abnormally slow frequencies, EEG with spike-wave complexes (>3.5 Hz), Epileptic encephalopathy, Eyelid myoclonus, Intellectual disability, Mental deterioration, Myoclonic atonic seizures, Status epilepticus
ANKRD11	ANKRD11	-0.256	./vio/AST-PP/ANKRD11.png	0.037388372	no	yes	no	Transcription regulatory protein	BrainSpLMD|29123	SFARI||Autism, 2 - Strong candidate;OMIM|611192;HPO|29123|Anteverted nares, Autism, Autosomal dominant inheritance, Cervical ribs, Clinodactyly, Colpocephaly, Cryptorchidism, Delayed skeletal maturation, Frontal bossing, Global developmental delay, High forehead, High palate, Hypertelorism, Hypoplasia of the corpus callosum, Intellectual disability, Intellectual disability, moderate, Long palpebral fissure, Long philtrum, Low anterior hairline, Low posterior hairline, Macrodontia, Macrotia, Microcephaly, Micrognathia, Oligodontia, Optic nerve hypoplasia, Periventricular gray matter heterotopia, Pointed chin, Protruding ear, Radial deviation of finger, Rib fusion, Round face, Seizures, Short stature, Single transverse palmar crease, Smooth philtrum, Syndactyly, Telecanthus, Thick eyebrow, Thoracic kyphosis, Triangular face, Underdeveloped nasal alae, Ventriculomegaly, Vertebral arch anomaly, Vertebral fusion, Wide mouth, Widely-spaced maxillary central incisors
ADD1	ADD1	-0.203	./vio/AST-PP/ADD1.png	0.039289178	no	no	no	Structural protein	BrainSpLMD|118	OMIM|102680
BMP7	BMP7	-0.205	./vio/AST-PP/BMP7.png	0.039969767	no	no	no	Ligand	BrainSpLMD|655;BrainSpMouseDev|11948	OMIM|112267
ARHGAP32	ARHGAP32	0.264	./vio/AST-PP/ARHGAP32.png	0.040380949	no	yes	no		BrainSpLMD|9743	SFARI||Autism, 4 - Minimal evidence;OMIM|608541
SOD1	SOD1	-0.222	./vio/AST-PP/SOD1.png	0.040753064	no	yes	no	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
FGFR3	FGFR3	-0.509	./vio/AST-PP/FGFR3.png	0.040842889	no	no	no	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
BMPR1B	BMPR1B	0.319	./vio/AST-PP/BMPR1B.png	0.041969966	no	no	no	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
PEA15	PEA15	-0.209	./vio/AST-PP/PEA15.png	0.041969966	no	no	no	Transport/cargo protein	BrainSpLMD|8682;Eurexp|euxassay_011580|neural retina, ventral grey horn, ventricular layer	OMIM|603434
JARID2	JARID2	0.361	./vio/AST-PP/JARID2.png	0.04227165	no	yes	no	DNA binding protein	BrainSpLMD|3720	SFARI||Autism, No category;OMIM|601594
TTC19	TTC19	0.265	./vio/AST-PP/TTC19.png	0.042404254	no	no	no	Unclassified	BrainSpLMD|54902;Eurexp|euxassay_002848|dorsal root ganglion, facial VII, glossopharyngeal IX, trigeminal V	OMIM|613814;HPO|54902|Aggressive behavior, Anxiety, Apraxia, Autosomal recessive inheritance, Axonal degeneration, Bradykinesia, Cerebellar atrophy, Cerebral atrophy, Cognitive impairment, Depressivity, Dysarthria, Dysdiadochokinesis, Dysmetria, Dysphonia, Dystonia, Hallucinations, Incoordination, Muscle weakness, Neurodegeneration, Nystagmus, Obsessive-compulsive behavior, Olivopontocerebellar atrophy, Phenotypic variability, Psychosis, Skeletal muscle atrophy, Spastic paraparesis, Tremor
EIF1	EIF1	-0.252	./vio/AST-PP/EIF1.png	0.042500558	no	no	no	Translation regulatory protein	BrainSpLMD|10209	
HSPA5	HSPA5	-0.208	./vio/AST-PP/HSPA5.png	0.043612685	no	no	no	Chaperone	BrainSpLMD|3309	OMIM|138120
WNK2	WNK2	-0.217	./vio/AST-PP/WNK2.png	0.044742179	no	no	no	Serine/threonine kinase	BrainSpLMD|65268;Eurexp|euxassay_009817|brain, glossopharyngeal IX, neural retina, spinal cord, trigeminal V, vestibulocochlear VIII	OMIM|606249;COSMIC||gastric cancer
RP5-864K19.4	RP5-864K19.4	-0.236	./vio/AST-PP/RP5-864K19.4.png	0.046528145	no	no	no			
PARP6	PARP6	-0.200	./vio/AST-PP/PARP6.png	0.047336329	no	no	no	DNA repair protein	BrainSpLMD|56965;Eurexp|euxassay_012100|brain, cervical, cervico-thoracic, dorsal root ganglion, facial VII, glossopharyngeal IX, neural retina, olfactory, spinal cord, thoracic, trigeminal V, vagus X, vestibulocochlear VIII	
MBOAT2	MBOAT2	-0.237	./vio/AST-PP/MBOAT2.png	0.047346649	no	no	no	Unclassified	BrainSpLMD|129642	OMIM|611949
ZBTB8OS	ZBTB8OS	-0.239	./vio/AST-PP/ZBTB8OS.png	0.047630272	no	no	no	Unclassified	BrainSpLMD|339487	OMIM|615891
QKI	QKI	0.228	./vio/AST-PP/QKI.png	0.048397828	no	no	no	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
U2SURP	U2SURP	-0.232	./vio/AST-PP/U2SURP.png	0.048894779	no	no	no			
BRINP3	BRINP3	0.292	./vio/AST-PP/BRINP3.png	0.049466668	no	no	no	Unclassified	BrainSpLMD|339479;Eurexp|euxassay_002098|mantle layer, olfactory, spinal cord, submandibular gland primordium	
ATP6V1E1	ATP6V1E1	-0.215	./vio/AST-PP/ATP6V1E1.png	0.049791627	no	no	no	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
TNK2	TNK2	-0.215	./vio/AST-PP/TNK2.png	0.049910306	no	no	no	Tyrosine kinase	BrainSpLMD|10188;Eurexp|euxassay_015328|brain, dorsal root ganglion, spinal cord, submandibular gland primordium, vibrissa	OMIM|606994