Gene Scoring 864 total scored genes, 79 uncategorized

Database updated on April 28, 2020

Scoring process

We recognize that the gene scoring process we developed is only one of many methodologies that could have been employed to evaluate these genes. Our goal is to encourage more research, not less, and we hope that researchers will use these evaluations to design new experiments aimed at strengthening the evidence associating each gene with ASD. For more information on our scoring process, visit the About Gene Scoring page.

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S Category S   [39 genes]

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Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ANKS1Bankyrin repeat and sterile alpha motif domain containing 1B12Rare Single Gene Mutation, Syndromic3S3
ARID2AT-rich interaction domain 212Rare Single Gene Mutation, Syndromic3S6
ATP1A1ATPase Na+/K+ transporting subunit alpha 11Rare Single Gene Mutation, Syndromic3S4
ATP1A3ATPase Na+/K+ transporting subunit alpha 319Rare Single Gene Mutation, Syndromic, Functional3S13
CAMK2Acalcium/calmodulin dependent protein kinase II alpha5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional3S8
CEP290Centrosomal protein 290kDa12Rare Single Gene Mutation, Syndromic3S8
CHD1chromodomain helicase DNA binding protein 15Rare Single Gene Mutation3S4
CLCN4chloride voltage-gated channel 4XRare Single Gene Mutation, Syndromic3S5
CNKSR2connector enhancer of kinase suppressor of Ras 2XRare Single Gene Mutation, Syndromic2S5
CNTNAP2contactin associated protein-like 27Rare Single Gene Mutation, Syndromic, Genetic Association2S67
CSDE1cold shock domain containing E11Rare Single Gene Mutation, Syndromic2S2
CUX2cut like homeobox 212Rare Single Gene Mutation, Syndromic3S8
DLL1delta like canonical Notch ligand 16Rare Single Gene Mutation, Syndromic3S2
FBXO11F-box protein 112Rare Single Gene Mutation, Syndromic3S6
GABBR2gamma-aminobutyric acid type B receptor subunit 29Rare Single Gene Mutation, Syndromic, Functional3S11
HDAC4histone deacetylase 42Rare Single Gene Mutation, Syndromic, Genetic Association3S16
KAT6AK(lysine) acetyltransferase 6A8Rare Single Gene Mutation, Syndromic2S13
KIF5CKinesin family member 5C2Rare Single Gene Mutation, Syndromic3S8
MED12Lmediator complex subunit 12L3Rare Single Gene Mutation, Syndromic3S4
MEF2Cmyocyte enhancer factor 2C5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional3S34
MTORMechanistic target of rapamycin (serine/threonine kinase)1Rare Single Gene Mutation, Syndromic, Functional2S18
NFIBnuclear factor I B9Rare Single Gene Mutation, Syndromic3S5
NR2F1nuclear receptor subfamily 2 group F member 15Rare Single Gene Mutation, Syndromic3S14
NTNG1netrin G11Rare Single Gene Mutation, Syndromic, Genetic Association3S8
PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D17Rare Single Gene Mutation, Syndromic3S6
PRODHProline dehydrogenase (oxidase) 122Syndromic, Genetic Association2S6
RNF135Ring finger protein 13517Rare Single Gene Mutation, Syndromic, Genetic Association3S4
RPS6KA3Ribosomal protein S6 kinase, 90kDa, polypeptide 3XRare Single Gene Mutation, Syndromic3S9
SATB2SATB homeobox 22Rare Single Gene Mutation, Syndromic, Genetic Association3S28
SETD1BSET domain containing 1B12Rare Single Gene Mutation, Syndromic3S9
SMC3structural maintenance of chromosomes 310Rare Single Gene Mutation, Syndromic3S9
SYNE1spectrin repeat containing, nuclear envelope 16Rare Single Gene Mutation, Genetic Association3S16
SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit14Rare Single Gene Mutation2S6
TRRAPtransformation/transcription domain associated protein7Rare Single Gene Mutation, Syndromic3S9
TTNtitin2Rare Single Gene Mutation, Syndromic3S22
UNC13Aunc-13 homolog A19Rare Single Gene Mutation, Syndromic3S6
USP7Ubiquitin specific peptidase 7 (herpes virus-associated)16Rare Single Gene Mutation, Syndromic2S7
YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma7Rare Single Gene Mutation, Syndromic3S6
ZMIZ1zinc finger MIZ-type containing 110Rare Single Gene Mutation, Syndromic2S4

1 Category 1   [192 genes]

Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ADNPActivity-dependent neuroprotector homeobox20Rare Single Gene Mutation, Syndromic, Functional141
ADSLadenylosuccinate lyase22Rare Single Gene Mutation, Syndromic16
AFF2AF4/FMR2 family, member 2XRare Single Gene Mutation, Syndromic115
AHDC1AT-hook DNA binding motif containing 11Rare Single Gene Mutation, Syndromic111
ALDH5A1aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase )6Rare Single Gene Mutation, Syndromic110
ANK2Ankyrin 2, neuronal4Rare Single Gene Mutation117
ANK3ankyrin 310Rare Single Gene Mutation, Genetic Association126
ANKRD11ankyrin repeat domain 1116Rare Single Gene Mutation, Syndromic145
ARHGEF9Cdc42 guanine nucleotide exchange factor (GEF) 9XRare Single Gene Mutation, Syndromic110
ARID1BAT-rich interaction domain 1B6Rare Single Gene Mutation, Syndromic147
ARXaristaless related homeoboxXRare Single Gene Mutation, Syndromic117
ASH1LAsh1 (absent, small, or homeotic)-like (Drosophila)1Rare Single Gene Mutation, Syndromic116
ASXL3Additional sex combs like 3 (Drosophila)18Rare Single Gene Mutation, Syndromic125
AP2S1adaptor related protein complex 2 subunit sigma 119Rare Single Gene Mutation12
ATRXalpha thalassemia/mental retardation syndrome X-linkedXRare Single Gene Mutation, Syndromic121
AUTS2autism susceptibility candidate 27Rare Single Gene Mutation, Syndromic, Genetic Association139
BAZ2Bbromodomain adjacent to zinc finger domain 2B2Rare Single Gene Mutation16
BCKDKBranched chain ketoacid dehydrogenase kinase16Rare Single Gene Mutation14
BCL11AB-cell CLL/lymphoma 11A (zinc finger protein)2Rare Single Gene Mutation, Syndromic118
BRAFv-raf murine sarcoma viral oncogene homolog B7Rare Single Gene Mutation, Syndromic18
BRSK2BR serine/threonine kinase 211Rare Single Gene Mutation, Syndromic14
CACNA1Ccalcium channel, voltage-dependent, L type, alpha 1C subunit12Rare Single Gene Mutation, Syndromic, Genetic Association, Functional147
CACNA1Ecalcium voltage-gated channel subunit alpha1 E1Rare Single Gene Mutation112
CACNA2D3Calcium channel, voltage-dependent, alpha 2/delta subunit 33Rare Single Gene Mutation17
CASKcalcium/calmodulin dependent serine protein kinaseXRare Single Gene Mutation, Syndromic116
CDKL5cyclin-dependent kinase-like 5XRare Single Gene Mutation, Syndromic136
CELF4CUGBP, Elav-like family member 418Rare Single Gene Mutation, Functional111
CHAMP1chromosome alignment maintaining phosphoprotein 113Rare Single Gene Mutation, Syndromic15
CHD2Chromodomain helicase DNA binding protein 215Rare Single Gene Mutation, Syndromic140
CHD3chromodomain helicase DNA binding protein 317Rare Single Gene Mutation, Syndromic16
CHD7chromodomain helicase DNA binding protein 78Rare Single Gene Mutation, Syndromic128
CHD8chromodomain helicase DNA binding protein 814Rare Single Gene Mutation, Syndromic, Functional154
CICcapicua transcriptional repressor19Rare Single Gene Mutation, Functional15
CNOT3CCR4-NOT transcription complex subunit 319Rare Single Gene Mutation, Syndromic17
CREBBPCREB binding protein16Rare Single Gene Mutation, Syndromic, Genetic Association129
CTCFCCCTC-binding factor16Rare Single Gene Mutation, Syndromic, Functional116
CTNNB1catenin beta 13Rare Single Gene Mutation, Syndromic122
CUL3Cullin 32Rare Single Gene Mutation, Genetic Association121
CORO1Acoronin 1A16Rare Single Gene Mutation11
DDX3XDEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linkedXRare Single Gene Mutation, Syndromic119
DEAF1DEAF1 transcription factor11Rare Single Gene Mutation, Syndromic119
DHCR77-dehydrocholesterol reductase11Rare Single Gene Mutation, Syndromic117
DIP2ADIP2 disco-interacting protein 2 homolog A (Drosophila)21Rare Single Gene Mutation, Functional19
DLG4discs large MAGUK scaffold protein 417Rare Single Gene Mutation, Syndromic, Functional111
DMPKdystrophia myotonica-protein kinase19Rare Single Gene Mutation, Syndromic18
DNMT3ADNA (cytosine-5-)-methyltransferase 3 alpha2Rare Single Gene Mutation, Syndromic, Genetic Association117
DPYSL2dihydropyrimidinase like 28Rare Single Gene Mutation, Genetic Association, Functional114
DSCAMDown syndrome cell adhesion molecule21Rare Single Gene Mutation, Genetic Association110
DYNC1H1dynein cytoplasmic 1 heavy chain 114Rare Single Gene Mutation, Syndromic116
DYRK1ADual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A21Rare Single Gene Mutation, Syndromic, Functional145
EBF3early B-cell factor 310Rare Single Gene Mutation, Syndromic19
EHMT1Euchromatic histone-lysine N-methyltransferase 19Rare Single Gene Mutation, Syndromic, Functional124
EIF3Geukaryotic translation initiation factor 3 subunit G19Rare Single Gene Mutation14
ELAVL3ELAV like neuron-specific RNA binding protein 319Rare Single Gene Mutation14
EP300E1A binding protein p30022Rare Single Gene Mutation, Syndromic117
FMR1fragile X mental retardation 1XRare Single Gene Mutation, Syndromic, Genetic Association, Functional143
FOXG1Forkhead box G114Rare Single Gene Mutation, Syndromic, Genetic Association126
FOXP1forkhead box P13Rare Single Gene Mutation, Syndromic, Genetic Association, Functional150
FOXP2forkhead box P27Rare Single Gene Mutation, Genetic Association143
GABRB3gamma-aminobutyric acid (GABA) A receptor, beta 315Rare Single Gene Mutation, Genetic Association138
GABRB2gamma-aminobutyric acid type A receptor subunit beta25Rare Single Gene Mutation12
GFAPglial fibrillary acidic protein17Rare Single Gene Mutation11
GIGYF1GRB10 interacting GYF protein 17Rare Single Gene Mutation111
GIGYF2GRB10 interacting GYF protein 22Rare Single Gene Mutation17
GRIA2glutamate ionotropic receptor AMPA type subunit 24Rare Single Gene Mutation14
GNAI1G protein subunit alpha i17Rare Single Gene Mutation13
GRIN2Bglutamate receptor, inotropic, N-methyl D-apartate 2B12Rare Single Gene Mutation, Syndromic, Genetic Association155
HDLBPhigh density lipoprotein binding protein2Rare Single Gene Mutation15
HECTD4HECT domain E3 ubiquitin protein ligase 412Rare Single Gene Mutation16
HIVEP2HIVEP zinc finger 26Syndromic, Functional18
HNRNPH2heterogeneous nuclear ribonucleoprotein H2XRare Single Gene Mutation, Syndromic16
HNRNPUheterogeneous nuclear ribonucleoprotein U1Rare Single Gene Mutation, Syndromic, Functional114
HRASv-Ha-ras Harvey rat sarcoma viral oncogene homolog11Rare Single Gene Mutation, Syndromic, Genetic Association112
IQSEC2IQ motif and Sec7 domain 2XRare Single Gene Mutation, Syndromic, Functional126
IRF2BPLInterferon regulatory factor 2 binding protein-like14Rare Single Gene Mutation, Syndromic17
KANSL1KAT8 regulatory NSL complex subunit 117Rare Single Gene Mutation, Syndromic12
KATNAL2Katanin p60 subunit A-like 218Rare Single Gene Mutation112
KCNB1potassium voltage-gated channel subfamily B member 120Rare Single Gene Mutation, Syndromic19
KCNQ3potassium voltage-gated channel subfamily Q member 38Rare Single Gene Mutation, Genetic Association110
KDM3Blysine demethylase 3B5Syndromic11
KDM5BLysine (K)-specific demethylase 5B1Rare Single Gene Mutation, Syndromic, Functional115
KDM6BLysine (K)-specific demethylase 6B17Rare Single Gene Mutation, Syndromic112
KIAA0232KIAA02324Rare Single Gene Mutation12
KMT2ALysine (K)-specific methyltransferase 2A11Rare Single Gene Mutation, Syndromic121
KMT2CLysine (K)-specific methyltransferase 2C7Rare Single Gene Mutation, Syndromic, Functional118
KMT2ELysine (K)-specific methyltransferase 2E7Rare Single Gene Mutation, Syndromic, Genetic Association19
KMT5Blysine methyltransferase 5B11Rare Single Gene Mutation, Syndromic112
LZTR1Leucine-zipper-like transcription regulator 122Rare Single Gene Mutation, Syndromic111
MAGEL2MAGE-like 215Rare Single Gene Mutation, Syndromic116
MBD5Methyl-CpG binding domain protein 52Rare Single Gene Mutation, Syndromic, Functional135
MBOAT7membrane bound O-acyltransferase domain containing 719Rare Single Gene Mutation, Syndromic16
MECP2Methyl CpG binding protein 2XRare Single Gene Mutation, Syndromic, Functional182
LDB1LIM domain binding 110Rare Single Gene Mutation12
LRRC4Cleucine rich repeat containing 4C11Rare Single Gene Mutation11
MED13mediator complex subunit 1317Rare Single Gene Mutation, Syndromic14
MED13LMediator complex subunit 13-like12Rare Single Gene Mutation, Syndromic133
MEIS2Meis homeobox 215Rare Single Gene Mutation, Syndromic17
MYT1LMyelin transcription factor 1-like2Rare Single Gene Mutation, Syndromic, Genetic Association120
MAP1Amicrotubule associated protein 1A15Rare Single Gene Mutation13
MKXmohawk homeobox10Rare Single Gene Mutation11
NAA15N(alpha)-acetyltransferase 15, NatA auxiliary subunit4Rare Single Gene Mutation, Syndromic113
NACC1nucleus accumbens associated 119Rare Single Gene Mutation, Syndromic17
NBEAneurobeachin13Rare Single Gene Mutation, Syndromic, Functional119
NCKAP1NCK-associated protein 12Rare Single Gene Mutation19
NF1neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)17Rare Single Gene Mutation, Syndromic, Genetic Association124
NEXMIFneurite extension and migration factorXRare Single Gene Mutation, Syndromic, Functional120
NIPBLNipped-B homolog (Drosophila)5Rare Single Gene Mutation, Syndromic113
NLGN2Neuroligin 217Rare Single Gene Mutation, Functional18
NLGN3neuroligin 3XRare Single Gene Mutation135
NR3C2Nuclear receptor subfamily 3, group C, member 24Rare Single Gene Mutation, Syndromic17
NR4A2nuclear receptor subfamily 4 group A member 22Rare Single Gene Mutation17
NCOA1nuclear receptor coactivator 12Rare Single Gene Mutation12
NRXN1neurexin 12Rare Single Gene Mutation, Syndromic, Genetic Association, Functional186
NRXN2neurexin 211Rare Single Gene Mutation, Genetic Association111
NRXN3neurexin 314Rare Single Gene Mutation, Genetic Association118
NSD1nuclear receptor binding SET domain protein 15Rare Single Gene Mutation, Syndromic117
PACS1phosphofurin acidic cluster sorting protein 111Rare Single Gene Mutation, Syndromic16
PAX5Paired box 59Rare Single Gene Mutation17
PCDH19protocadherin 19XRare Single Gene Mutation, Syndromic, Functional134
PHF2PHD finger protein 29Rare Single Gene Mutation17
PHF21APHD finger protein 21A11Rare Single Gene Mutation, Syndromic19
PHF3PHD finger protein 36Rare Single Gene Mutation14
PHIPpleckstrin homology domain interacting protein6Rare Single Gene Mutation, Syndromic111
POGZPogo transposable element with ZNF domain1Rare Single Gene Mutation, Syndromic, Functional133
POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)1Rare Single Gene Mutation, Syndromic15
PPP2R5DProtein phosphatase 2, regulatory subunit B', delta6Rare Single Gene Mutation, Syndromic115
PRR12proline rich 1219Rare Single Gene Mutation, Syndromic13
PHF12PHD finger protein 1217Rare Single Gene Mutation12
PPP1R9Bprotein phosphatase 1 regulatory subunit 9B17Rare Single Gene Mutation11
PPP5Cprotein phosphatase 5 catalytic subunit19Rare Single Gene Mutation12
PSMD12proteasome 26S subunit, non-ATPase 1217Syndromic13
PTCHD1patched domain containing 1XRare Single Gene Mutation, Genetic Association111
NUP155nucleoporin 1555Rare Single Gene Mutation11
PTENphosphatase and tensin homolog (mutated in multiple advanced cancers 1)10Rare Single Gene Mutation, Syndromic, Functional162
PTK7Protein tyrosine kinase 7 (inactive)6Rare Single Gene Mutation15
PTPN11protein tyrosine phosphatase, non-receptor type 1112Rare Single Gene Mutation, Syndromic116
RAI1retinoic acid induced 117Rare Single Gene Mutation, Syndromic122
RELNReelin7Rare Single Gene Mutation, Syndromic, Genetic Association, Functional152
REREArginine-glutamic acid dipeptide (RE) repeats1Rare Single Gene Mutation, Syndromic, Genetic Association17
RFX3regulatory factor X39Rare Single Gene Mutation17
RIMS1Regulating synaptic membrane exocytosis 16Rare Single Gene Mutation, Genetic Association18
RORBRAR related orphan receptor B9Rare Single Gene Mutation, Syndromic, Functional16
SCN1Asodium channel, voltage-gated, type I, alpha subunit2Rare Single Gene Mutation, Syndromic, Genetic Association162
SCN2Asodium channel, voltage-gated, type II, alpha subunit2Rare Single Gene Mutation, Syndromic165
SATB1SATB homeobox 13Rare Single Gene Mutation11
SCN8Asodium channel, voltage gated, type VIII, alpha subunit12Rare Single Gene Mutation, Syndromic135
SETBP1SET binding protein 118Rare Single Gene Mutation, Syndromic113
SETD2SET domain containing 23Rare Single Gene Mutation, Syndromic113
SETD5SET domain containing 53Rare Single Gene Mutation, Syndromic125
SHANK2SH3 and multiple ankyrin repeat domains 211Rare Single Gene Mutation, Syndromic, Genetic Association, Functional135
SHANK3SH3 and multiple ankyrin repeat domains 322Rare Single Gene Mutation, Syndromic, Genetic Association, Functional184
SIN3ASIN3 transcription regulator family member A15Rare Single Gene Mutation, Syndromic110
SLC6A1Solute carrier family 6 (neurotransmitter transporter), member 13Rare Single Gene Mutation, Syndromic, Genetic Association125
SKISKIproto-oncogene1Rare Single Gene Mutation13
SLC9A6solute carrier family 9 (sodium/hydrogen exchanger), member 6XRare Single Gene Mutation, Syndromic, Functional116
SMARCC2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 212Rare Single Gene Mutation, Syndromic, Functional112
SONSONDNA binding protein21Rare Single Gene Mutation, Syndromic15
SOX5SRY-box 512Rare Single Gene Mutation, Syndromic, Genetic Association114
SPASTSpastin2Rare Single Gene Mutation111
SRCAPSnf2 related CREBBP activator protein16Rare Single Gene Mutation15
STXBP1Syntaxin binding protein 19Rare Single Gene Mutation, Syndromic, Functional142
SYNGAP1synaptic Ras GTPase activating protein 16Rare Single Gene Mutation, Syndromic156
TANC2etratricopeptide repeat, ankyrin repeat and coiled-coil containing 217Rare Single Gene Mutation, Syndromic110
SRPRASRP receptor subunit alpha11Rare Single Gene Mutation12
TAOK1TAO kinase 117Rare Single Gene Mutation, Syndromic13
TBCKTBC1 domain containing kinase4Syndromic11
TBL1XR1transducin beta like 1 X-linked receptor 13Rare Single Gene Mutation, Syndromic121
TBR1T-box, brain, 12Rare Single Gene Mutation, Genetic Association, Functional129
TCF20Transcription factor 20 (AR1)22Rare Single Gene Mutation, Syndromic111
TCF4Transcription factor 418Rare Single Gene Mutation, Syndromic, Genetic Association145
TCF7L2Transcription factor 7-like 2 (T-cell specific, HMG-box)10Rare Single Gene Mutation14
TLK2tousled-like kinase 217Rare Single Gene Mutation, Syndromic115
TEKTEKreceptortyrosine kinase9Rare Single Gene Mutation11
TM9SF4transmembrane 9 superfamily member 420Rare Single Gene Mutation12
TRAF7TNF receptor associated factor 716Rare Single Gene Mutation, Syndromic15
TRIM23tripartite motif containing 235Rare Single Gene Mutation14
TRIOTrio Rho guanine nucleotide exchange factor5Rare Single Gene Mutation, Syndromic126
TRIP12Thyroid hormone receptor interactor 122Rare Single Gene Mutation, Syndromic119
TSC1tuberous sclerosis 19Rare Single Gene Mutation, Syndromic121
TSC2tuberous sclerosis 216Rare Single Gene Mutation, Syndromic, Genetic Association132
TSHZ3teashirt zinc finger homeobox 319Rare Single Gene Mutation, Functional13
UBE3Aubiquitin protein ligase E3A15Rare Single Gene Mutation, Syndromic, Genetic Association127
UPF3BUPF3B, regulator of nonsense mediated mRNA decayXRare Single Gene Mutation, Syndromic114
VEZF1vascular endothelial zinc finger 117Rare Single Gene Mutation12
VPS13Bvacuolar protein sorting 13 homolog B (yeast)8Rare Single Gene Mutation, Syndromic120
UBR1ubiquitin protein ligase E3 component n-recognin 115Rare Single Gene Mutation11
WACWW domain containing adaptor with coiled-coil10Rare Single Gene Mutation, Syndromic119
WDFY3WD repeat and FYVE domain containing 34Rare Single Gene Mutation, Syndromic, Functional118
ZBTB20Zinc finger and BTB domain containing 203Rare Single Gene Mutation, Syndromic123
ZMYND8zinc finger MYND-type containing 820Rare Single Gene Mutation13
ZNF292zinc finger protein 2926Rare Single Gene Mutation, Syndromic15
ZNF462Zinc finger protein 4629Rare Single Gene Mutation, Syndromic19

2 Category 2   [201 genes]

Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ACHEAcetylcholinesterase (Yt blood group)7Rare Single Gene Mutation25
ADAadenosine deaminase20Rare Single Gene Mutation, Genetic Association27
ADCY3adenylate cyclase 32Rare Single Gene Mutation22
AGAP2ArfGAP with GTPase domain, ankyrin repeat and PH domain 212Rare Single Gene Mutation24
AGO1argonaute 1, RISC catalytic component1Rare Single Gene Mutation27
AGO4argonaute RISC catalytic component 41Rare Single Gene Mutation23
AKAP9A kinase (PRKA) anchor protein 97Rare Single Gene Mutation25
AMPD1Adenosine monophosphate deaminase 11Rare Single Gene Mutation, Genetic Association23
AMTAminomethyltransferase3Rare Single Gene Mutation21
ANXA1Annexin A19Rare Single Gene Mutation22
APBB1amyloid beta precursor protein binding family B member 111Rare Single Gene Mutation, Functional23
APH1AAPH1A gamma secretase subunit1Rare Single Gene Mutation23
ASAP2ArfGAP with SH3 domain, ankyrin repeat and PH domain 22Rare Single Gene Mutation23
ASPMabnormal spindle microtubule assembly1Rare Single Gene Mutation, Syndromic, Functional28
ASTN2astrotactin 29Rare Single Gene Mutation, Genetic Association214
ATP10AProbable phospholipid-transporting ATPase VA15Rare Single Gene Mutation, Genetic Association, Functional29
ATP2B2ATPase, Ca++ transporting, plasma membrane 23Rare Single Gene Mutation, Genetic Association29
AVPR1Aarginine vasopressin receptor 1A12Rare Single Gene Mutation, Genetic Association223
BTAF1RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae)10Rare Single Gene Mutation27
CACNA1Dcalcium channel, voltage-dependent, L type, alpha 1D3Rare Single Gene Mutation, Syndromic, Genetic Association, Functional221
CACNA1Hcalcium channel, voltage-dependent, alpha 1H subunit16Rare Single Gene Mutation227
CACNB2Calcium channel, voltage-dependent, beta 2 subunit10Rare Single Gene Mutation, Genetic Association25
CAPRIN1Cell cycle associated protein 111Rare Single Gene Mutation, Functional24
CASZ1castor zinc finger 11Rare Single Gene Mutation24
CC2D1ACoiled-coil and C2 domain containing 1A19Rare Single Gene Mutation, Functional212
CCNG1cyclin G15Rare Single Gene Mutation21
CCT4Chaperonin containing TCP1, subunit 4 (delta)2Rare Single Gene Mutation23
CDC42BPBCDC42 binding protein kinase beta (DMPK-like)14Rare Single Gene Mutation, Syndromic28
CDH13cadherin 1316Rare Single Gene Mutation23
CEP135centrosomal protein 1354Rare Single Gene Mutation, Syndromic26
CEP41testis specific, 147Rare Single Gene Mutation, Syndromic25
CGNL1Cingulin-like 115Rare Single Gene Mutation24
CHMP1Acharged multivesicular body protein 1A16Rare Single Gene Mutation, Syndromic25
CHRNA7cholinergic receptor, nicotinic, alpha 715Rare Single Gene Mutation213
CIB2Calcium and integrin binding family member 215Rare Single Gene Mutation21
CLASP1cytoplasmic linker associated protein 12Rare Single Gene Mutation23
CNKSR2connector enhancer of kinase suppressor of Ras 2XRare Single Gene Mutation, Syndromic2S5
CNR1cannabinoid receptor 1 (brain)6Rare Single Gene Mutation, Genetic Association27
CNTN4contactin 43Rare Single Gene Mutation, Syndromic, Genetic Association221
CNTN5Contactin 511Rare Single Gene Mutation, Genetic Association29
CNTN6Contactin 63Rare Single Gene Mutation, Genetic Association213
CNTNAP2contactin associated protein-like 27Rare Single Gene Mutation, Syndromic, Genetic Association2S67
CNTNAP3contactin associated protein-like 39Rare Single Gene Mutation, Functional25
CNTNAP4Contactin associated protein-like 416Rare Single Gene Mutation, Functional211
CSDE1cold shock domain containing E11Rare Single Gene Mutation, Syndromic2S2
CTNND2Catenin (cadherin-associated protein), delta 25Rare Single Gene Mutation26
CTTNBP2cortactin binding protein 27Rare Single Gene Mutation, Syndromic28
CUL7Cullin 76Rare Single Gene Mutation26
CUX1cut like homeobox 17Rare Single Gene Mutation, Functional26
CPEB4cytoplasmic polyadenylation element binding protein 45Functional21
CYFIP1cytoplasmic FMR1 interacting protein 115Rare Single Gene Mutation, Genetic Association, Functional216
DAPP1Dual adaptor of phosphotyrosine and 3-phosphoinositides4Rare Single Gene Mutation22
DENRdensity-regulated protein12Rare Single Gene Mutation23
DIP2Cdisco interacting protein 2 homolog C10Rare Single Gene Mutation23
DISC1disrupted in schizophrenia 11Rare Single Gene Mutation, Syndromic, Genetic Association234
DLG2discs large MAGUK scaffold protein 211Rare Single Gene Mutation22
DLGAP1DLG associated protein 118Rare Single Gene Mutation, Functional29
DLX3distal-less homeobox 317Rare Single Gene Mutation22
DOCK8dedicator of cytokinesis 89Rare Single Gene Mutation210
DPP10Dipeptidyl-peptidase 102Rare Single Gene Mutation211
EFR3AEFR3 homolog A (S. cerevisiae)8Rare Single Gene Mutation25
ELP4Elongator acetyltransferase complex subunit 411Rare Single Gene Mutation, Genetic Association27
EP400E1A binding protein p40012Rare Single Gene Mutation26
EMSYEMSY, BRCA2 interacting transcriptional repressor11Rare Single Gene Mutation, Functional24
ETFBElectron-transfer-flavoprotein, beta polypeptide19Rare Single Gene Mutation24
FAM92BFamily with sequence similarity 92, member B16Rare Single Gene Mutation23
ERBINerbb2 interacting protein5Rare Single Gene Mutation26
FBN1Fibrillin 115Rare Single Gene Mutation211
GABRG3gamma-aminobutyric acid type A receptor gamma3 subunit15Genetic Association29
GALNT8polypeptide N-acetylgalactosaminyltransferase 812Rare Single Gene Mutation22
GGNBP2gametogenetin binding protein 217Rare Single Gene Mutation22
GPC4glypican 4XRare Single Gene Mutation22
GPHNGephyrin14Rare Single Gene Mutation28
GRIA1glutamate ionotropic receptor AMPA type subunit 15Rare Single Gene Mutation26
GRID1Glutamate receptor, ionotropic, delta 110Rare Single Gene Mutation, Genetic Association26
GRIK2glutamate ionotropic receptor kainate type subunit 26Rare Single Gene Mutation, Genetic Association219
GRIK5Glutamate receptor, ionotropic, kainate 519Rare Single Gene Mutation29
GRIN1Glutamate receptor, ionotropic, N-methyl D-aspartate 19Rare Single Gene Mutation, Functional218
GRIN2Aglutamate receptor, ionotropic, N-methyl D-aspartate 2A16Rare Single Gene Mutation, Syndromic, Genetic Association240
GRIP1glutamate receptor interacting protein 112Rare Single Gene Mutation213
HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 22Rare Single Gene Mutation, Syndromic27
HIVEP3human immunodeficiency virus type I enhancer binding protein 31Rare Single Gene Mutation, Genetic Association26
ICA1islet cell autoantigen 17Rare Single Gene Mutation28
ILF2Interleukin enhancer binding factor 21Rare Single Gene Mutation24
INTS6Integrator complex subunit 613Rare Single Gene Mutation24
ITGB3integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)17Rare Single Gene Mutation, Genetic Association215
JARID2jumonji and AT-rich interaction domain containing 26Rare Single Gene Mutation, Syndromic, Genetic Association211
KAT2BK(lysine) acetyltransferase 2B3Rare Single Gene Mutation26
KAT6AK(lysine) acetyltransferase 6A8Rare Single Gene Mutation, Syndromic2S13
KCNJ10potassium voltage-gated channel subfamily J member 101Rare Single Gene Mutation, Syndromic, Genetic Association211
KCNQ2potassium voltage-gated channel subfamily Q member 220Rare Single Gene Mutation, Syndromic, Genetic Association224
KCNS3potassium voltage-gated channel modifier subfamily S member 32Rare Single Gene Mutation24
KDM4Clysine demethylase 4C9Rare Single Gene Mutation22
KDM5Clysine demethylase 5CXRare Single Gene Mutation, Syndromic, Functional223
KDM6Alysine demethylase 6AXRare Single Gene Mutation, Syndromic27
KIAA1586KIAA15866Rare Single Gene Mutation24
KIF14kinesin family member 141Rare Single Gene Mutation, Syndromic24
KIRREL3Kin of IRRE like 3 (Drosophila)11Rare Single Gene Mutation215
HMGN1high mobility group nucleosome binding domain 121Genetic Association21
LAMB1laminin, beta 17Rare Single Gene Mutation, Genetic Association27
LEO1LEO1 homolog, Paf1/RNA polymerase II complex component15Rare Single Gene Mutation23
LRP1LDL receptor related protein 112Rare Single Gene Mutation24
MACROD2MACRO domain containing 220Rare Single Gene Mutation, Genetic Association219
LMX1BLIM homeobox transcription factor 1 beta9Genetic Association21
METmet proto-oncogene (hepatocyte growth factor receptor)7Rare Single Gene Mutation, Genetic Association, Functional238
MFRPMembrane frizzled-related protein11Rare Single Gene Mutation26
MSNP1ASMoesinpseudogene 1, antisense5Genetic Association, Functional212
MIR137microRNA 1371Rare Single Gene Mutation, Syndromic, Genetic Association, Functional210
MTORMechanistic target of rapamycin (serine/threonine kinase)1Rare Single Gene Mutation, Syndromic, Functional2S18
MYH10myosin heavy chain 1017Rare Single Gene Mutation25
MYO5Amyosin VA15Rare Single Gene Mutation, Genetic Association25
MYO9BMyosin IXB19Rare Single Gene Mutation24
NAV2neuron navigator 211Rare Single Gene Mutation29
NCOR1nuclear receptor corepressor 117Rare Single Gene Mutation, Functional26
NFE2L3nuclear factor, erythroid 2 like 37Rare Single Gene Mutation23
NINLNinein-like20Rare Single Gene Mutation26
NLGN1neuroligin 13Rare Single Gene Mutation, Genetic Association217
NLGN4Xneuroligin 4, X-linkedXRare Single Gene Mutation, Genetic Association233
NUAK1NUAK family, SNF1-like kinase, 112Rare Single Gene Mutation, Functional26
NUDCD2NudC domain containing 25Rare Single Gene Mutation23
OPHN1oligophrenin 1XRare Single Gene Mutation, Syndromic215
OR52M1Olfactory receptor, family 52, subfamily M, member 111Rare Single Gene Mutation22
OTUD7AOTU deubiquitinase 7A15Rare Single Gene Mutation, Functional24
OXTRoxytocin receptor3Rare Single Gene Mutation, Genetic Association, Functional247
P2RX5Purinergic receptor P2X, ligand gated ion channel, 517Rare Single Gene Mutation24
P4HA2Prolyl 4-hydroxylase, alpha polypeptide II5Rare Single Gene Mutation24
PAHPhenylalanine hydroxylase12Rare Single Gene Mutation, Syndromic27
PAK2p21 (RAC1) activated kinase 23Rare Single Gene Mutation24
PARD3BPar-3 partitioning defective 3 homolog B (C. elegans)2Rare Single Gene Mutation, Genetic Association27
PER2period circadian clock 22Rare Single Gene Mutation23
PHRF1PHD and ring finger domains 111Rare Single Gene Mutation24
PLCB1phospholipase C, beta 1 (phosphoinositide-specific)20Rare Single Gene Mutation27
PLXNA4Plexin A47Rare Single Gene Mutation, Functional24
PLXNB1plexin B13Rare Single Gene Mutation23
PREX1Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 120Rare Single Gene Mutation, Genetic Association22
PRICKLE1Prickle homolog 1 (Drosophila)12Rare Single Gene Mutation, Syndromic, Functional24
PRICKLE2prickle planar cell polarity protein 23Rare Single Gene Mutation, Functional24
PRKCBprotein kinase C beta16Rare Single Gene Mutation, Genetic Association26
PRKD2protein kinase D219Rare Single Gene Mutation23
PRODHProline dehydrogenase (oxidase) 122Syndromic, Genetic Association2S6
PRKNparkin RBR E3 ubiquitin protein ligase6Rare Single Gene Mutation, Genetic Association215
PHBprohibitin17Genetic Association21
PON1paraoxonase 17Genetic Association25
PTCHD1-ASPTCHD1antisense RNA (head to head)XRare Single Gene Mutation23
PYHIN1Pyrin and HIN domain family, member 11Rare Single Gene Mutation24
QRICH1glutamine rich 13Rare Single Gene Mutation24
RAB2ARAB2A, member RAS oncogene family8Rare Single Gene Mutation28
RAB43RAB43, member RAS oncogene family3Rare Single Gene Mutation22
RALGAPBRal GTPase activating protein non-catalytic beta subunit20Rare Single Gene Mutation24
RANBP17RAN binding protein 175Rare Single Gene Mutation26
RBFOX1RNA binding protein, fox-1 homolog (C. elegans) 116Rare Single Gene Mutation, Genetic Association234
RBM27RNA binding motif protein 275Rare Single Gene Mutation23
ROBO2roundabout guidance receptor 23Rare Single Gene Mutation, Genetic Association, Functional28
SAE1SUMO1 activating enzyme subunit 119Rare Single Gene Mutation23
SBF1SET binding factor 122Rare Single Gene Mutation29
RPS10P2-AS1ribosomal protein S10 pseudogene 2 anti-sense 120Genetic Association, Functional24
SCN9Asodium voltage-gated channel alpha subunit 92Rare Single Gene Mutation25
SEMA5Asema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A5Rare Single Gene Mutation, Genetic Association, Functional217
SETSETnuclear proto-oncogene9Rare Single Gene Mutation24
SHANK1SH3 and multiple ankyrin repeat domains 119Rare Single Gene Mutation, Genetic Association28
SHOXshort stature homeoboxX,YRare Single Gene Mutation22
SLC12A5Solute carrier family 12 (potassium/chloride transporter), member 520Rare Single Gene Mutation25
SLC38A10solute carrier family 38, member 1017Rare Single Gene Mutation22
SLC6A3Solute carrier family 6 (neurotransmitter transporter), member 35Rare Single Gene Mutation, Genetic Association, Functional215
SLC7A3Solute carrier family 7 (cationic amino acid transporter, y+ system), member 3XRare Single Gene Mutation22
SLC7A5solute carrier family 7 member 516Rare Single Gene Mutation, Functional23
SLC35B1solute carrier family 35 member B117Genetic Association21
SLITRK5SLIT and NTRK like family member 513Rare Single Gene Mutation, Functional29
SMAD4SMAD family member 418Rare Single Gene Mutation25
SMARCA4SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 419Rare Single Gene Mutation, Syndromic27
SNX5sorting nexin 520Rare Single Gene Mutation23
SPARCL1SPARC like 14Rare Single Gene Mutation, Functional23
SPENspenfamily transcriptional repressor1Rare Single Gene Mutation29
SRSF11serine and arginine rich splicing factor 111Rare Single Gene Mutation24
ST8SIA2ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 215Rare Single Gene Mutation, Genetic Association29
STXBP5Syntaxin binding protein 5 (tomosyn)6Rare Single Gene Mutation26
SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit14Rare Single Gene Mutation2S6
TAF6TATA-box binding protein associated factor 67Rare Single Gene Mutation23
TAOK2TAO kinase 216Rare Single Gene Mutation, Functional25
TBC1D31TBC1 domain family, member 318Rare Single Gene Mutation24
TERF2Telomeric repeat binding factor 216Rare Single Gene Mutation23
TET2Tet methylcytosine dioxygenase 24Rare Single Gene Mutation24
TMLHEtrimethyllysine hydroxylase, epsilonXRare Single Gene Mutation, Genetic Association25
TNRC6BTrinucleotide repeat containing 6B22Rare Single Gene Mutation28
TRAPPC9trafficking protein particle complex 98Rare Single Gene Mutation, Syndromic213
TRPC6Transient receptor potential cation channel, subfamily C, member 611Rare Single Gene Mutation23
TRPM1transient receptor potential cation channel subfamily M member 115Rare Single Gene Mutation24
UBE3CUbiquitin protein ligase E3C7Rare Single Gene Mutation24
UBN2ubinuclein 27Rare Single Gene Mutation24
UBR5ubiquitin protein ligase E3 component n-recognin 58Rare Single Gene Mutation27
UNC79unc-79 homolog, NALCN channel complex subunit14Rare Single Gene Mutation24
USP15ubiquitin specific peptidase 1512Rare Single Gene Mutation23
USP45Ubiquitin specific peptidase 456Rare Single Gene Mutation23
USP7Ubiquitin specific peptidase 7 (herpes virus-associated)16Rare Single Gene Mutation, Syndromic2S7
VIL1Villin 12Rare Single Gene Mutation23
WDFY4WDFY family member 410Rare Single Gene Mutation26
WWOXWW domain containing oxidoreductase16Rare Single Gene Mutation, Syndromic29
ZC3H4zinc finger CCCH-type containing 419Rare Single Gene Mutation23
ZMYND11Zinc finger, MYND-type containing 1110Rare Single Gene Mutation, Syndromic211
ZMIZ1zinc finger MIZ-type containing 110Rare Single Gene Mutation, Syndromic2S4
ZNF804AZinc finger protein 804A2Rare Single Gene Mutation, Genetic Association213

3 Category 3   [471 genes]

Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ABAT4-aminobutyrate aminotransferase16Rare Single Gene Mutation, Genetic Association35
ABCA10ATP-binding cassette, sub-family A (ABC1), member 1017Rare Single Gene Mutation31
ABCA13ATP binding cassette subfamily A member 137Rare Single Gene Mutation, Functional36
ABCA7ATP-binding cassette, sub-family A (ABC1), member 719Rare Single Gene Mutation34
ACEangiotensin I converting enzyme17Rare Single Gene Mutation, Genetic Association33
ACTN4actinin alpha 419Rare Single Gene Mutation34
ADCY5Adenylate cyclase 53Rare Single Gene Mutation36
ADKadenosine kinase10Rare Single Gene Mutation32
ADORA3Adenosine A3 receptor1Rare Single Gene Mutation, Functional32
AGAP1ArfGAP with GTPase domain, ankyrin repeat and PH domain 12Rare Single Gene Mutation38
ADSS2adenylosuccinate synthase 21Rare Single Gene Mutation33
AGBL4ATP/GTP binding protein-like 41Rare Single Gene Mutation33
AGMOalkylglycerol monooxygenase7Rare Single Gene Mutation, Genetic Association36
AGO3argonaute RISC catalytic component 31Rare Single Gene Mutation34
AGTR2angiotensin II receptor, type 2XRare Single Gene Mutation34
ANKS1Bankyrin repeat and sterile alpha motif domain containing 1B12Rare Single Gene Mutation, Syndromic3S3
APBA2amyloid beta (A4) precursor protein-binding, family A, member 215Rare Single Gene Mutation37
ARHGAP11BRho GTPase activating protein 11B15Rare Single Gene Mutation33
ARHGAP32Rho GTPase activating protein 3211Rare Single Gene Mutation, Functional37
ARHGAP5Rho GTPase activating protein 514Rare Single Gene Mutation34
ARHGEF10Rho guanine nucleotide exchange factor 108Rare Single Gene Mutation, Functional34
ARID2AT-rich interaction domain 212Rare Single Gene Mutation, Syndromic3S6
ARNT2aryl-hydrocarbon receptor nuclear translocator 215Rare Single Gene Mutation, Syndromic, Genetic Association311
ASB14ankyrin repeat and SOCS box containing 143Rare Single Gene Mutation34
ASMTacetylserotonin O-methyltransferaseX,YRare Single Gene Mutation, Genetic Association39
ADORA2Aadenosine A2a receptor22Genetic Association37
ADRB2adrenergic, beta-2-, receptor, surface5Genetic Association310
ATP1A1ATPase Na+/K+ transporting subunit alpha 11Rare Single Gene Mutation, Syndromic3S4
ATP1A3ATPase Na+/K+ transporting subunit alpha 319Rare Single Gene Mutation, Syndromic, Functional3S13
ATP6V0A2ATPase H+ transporting V0 subunit a212Rare Single Gene Mutation33
ARandrogen receptorXGenetic Association36
AZGP1alpha-2-glycoprotein 1, zinc-binding7Rare Single Gene Mutation33
BBS4Bardet-Biedl syndrome 415Rare Single Gene Mutation, Syndromic35
BCAS1breast carcinoma amplified sequence 120Rare Single Gene Mutation33
BIRC6Baculoviral IAP repeat containing 62Rare Single Gene Mutation310
BRCA2breast cancer 2, early onset13Rare Single Gene Mutation35
BRD4bromodomain containing 419Rare Single Gene Mutation, Syndromic34
BST1bone marrow stromal cell antigen 14Genetic Association, Functional35
BTRCbeta-transducin repeat containing E3 ubiquitin protein ligase10Rare Single Gene Mutation32
C15orf62chromosome 15 open reading frame 6215Rare Single Gene Mutation32
C4Bcomplement component 4B6Rare Single Gene Mutation, Genetic Association, Functional36
CA6carbonic anhydrase VI1Rare Single Gene Mutation36
CACNA1Bcalcium voltage-gated channel subunit alpha1 B9Rare Single Gene Mutation, Syndromic, Genetic Association39
CACNA1Fcalcium channel, voltage-dependent, alpha 1FXRare Single Gene Mutation, Genetic Association37
CACNA1Gcalcium channel, voltage-dependent, T type, alpha 1G subunit17Rare Single Gene Mutation, Syndromic, Genetic Association320
CACNA1ICalcium channel, voltage-dependent, T type, alpha 1I subunit22Rare Single Gene Mutation, Genetic Association37
CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 17Rare Single Gene Mutation33
CADM1cell adhesion molecule 111Rare Single Gene Mutation39
AVPR1Barginine vasopressin receptor 1B1Genetic Association, Functional38
CADM2Cell adhesion molecule 23Rare Single Gene Mutation, Genetic Association34
CADPScalcium dependent secretion activator3Rare Single Gene Mutation, Genetic Association33
CADPS2Ca2+-dependent activator protein for secretion 27Rare Single Gene Mutation, Functional312
CAMK2Acalcium/calmodulin dependent protein kinase II alpha5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional3S8
CAMK4Calcium/calmodulin-dependent protein kinase IV5Genetic Association31
CAPN12Calpain 1219Rare Single Gene Mutation36
CARD11caspase recruitment domain family member 117Rare Single Gene Mutation31
CASC4cancer susceptibility candidate 415Rare Single Gene Mutation34
BICDL1BICD family like cargo adaptor 112Genetic Association32
CCDC88CCoiled-coil domain containing 88C14Rare Single Gene Mutation36
CCDC91coiled-coil domain containing 9112Rare Single Gene Mutation34
CCINcalicin9Rare Single Gene Mutation32
CCSER1coiled-coil serine rich protein 14Rare Single Gene Mutation32
CD276CD276molecule15Rare Single Gene Mutation32
CD38CD38 molecule4Rare Single Gene Mutation, Genetic Association, Functional39
CD99L2CD99 molecule like 2XGenetic Association31
CDH10cadherin 10, type 2 (T2-cadherin)5Rare Single Gene Mutation, Genetic Association310
CDH11cadherin 1116Rare Single Gene Mutation34
CDH22cadherin-like 2220Genetic Association34
CDH8cadherin 8, type 216Rare Single Gene Mutation310
CDH9cadherin 9, type 2 (T1-cadherin)5Rare Single Gene Mutation, Genetic Association37
CECR2CECR2, histone acetyl-lysine reader22Rare Single Gene Mutation32
CELF6CUGBP, Elav-like family member 615Rare Single Gene Mutation, Genetic Association34
CEP290Centrosomal protein 290kDa12Rare Single Gene Mutation, Syndromic3S8
CHD1chromodomain helicase DNA binding protein 15Rare Single Gene Mutation3S4
CHRM3cholinergic receptor muscarinic 31Rare Single Gene Mutation, Genetic Association36
CHRNB3cholinergic receptor nicotinic beta 3 subunit8Rare Single Gene Mutation33
CLCN4chloride voltage-gated channel 4XRare Single Gene Mutation, Syndromic3S5
CLN8Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)8Rare Single Gene Mutation, Syndromic33
CLTCL1clathrin, heavy chain-like 122Rare Single Gene Mutation36
CMIPc-Maf inducing protein16Rare Single Gene Mutation, Genetic Association36
CMPK2cytidine/uridine monophosphate kinase 22Rare Single Gene Mutation32
CNGB3cyclic nucleotide gated channel beta 38Rare Single Gene Mutation33
CNTN3contactin 33Rare Single Gene Mutation35
CNTNAP5contactin associated protein-like 52Rare Single Gene Mutation, Genetic Association312
COL28A1collagen type XXVIII alpha 1 chain7Rare Single Gene Mutation33
CPT2carnitine palmitoyltransferase 21Rare Single Gene Mutation32
CPZcarboxypeptidase Z4Rare Single Gene Mutation33
CSMD1CUB and Sushi multiple domains 18Rare Single Gene Mutation, Genetic Association313
CSNK1Ecasein kinase 1 epsilon22Rare Single Gene Mutation, Functional35
CTNNA3catenin (cadherin-associated protein), alpha 310Rare Single Gene Mutation, Genetic Association315
CUX2cut like homeobox 212Rare Single Gene Mutation, Syndromic3S8
CX3CR1Chemokine (C-X3-C motif) receptor 13Rare Single Gene Mutation, Functional33
CYLC2cylicin, basic protein of sperm head cytoskeleton 29Rare Single Gene Mutation33
CYP11B1cytochrome P450, family 11, subfamily B, polypeptide 18Syndromic34
DAGLAdiacylglycerol lipase alpha11Rare Single Gene Mutation, Functional35
DDCdopa decarboxylase7Genetic Association32
DDX53DEAD (Asp-Glu-Ala-Asp) box polypeptide 53XRare Single Gene Mutation33
DIXDC1DIX domain containing 111Rare Single Gene Mutation, Functional34
DLG1discs large MAGUK scaffold protein 13Rare Single Gene Mutation34
DIPK2Adivergent protein kinase domain 2A3Rare Single Gene Mutation33
DLGAP2discs, large (Drosophila) homolog-associated protein 28Rare Single Gene Mutation312
DLGAP3DLG associated protein 31Rare Single Gene Mutation, Genetic Association, Functional310
DLL1delta like canonical Notch ligand 16Rare Single Gene Mutation, Syndromic3S2
DLX6distal-less homeobox 67Rare Single Gene Mutation39
DMWDDM1 locus, WD repeat containing19Rare Single Gene Mutation32
DMXL2Dmx-like 215Rare Single Gene Mutation36
DNAH10Dynein, axonemal, heavy chain 1012Rare Single Gene Mutation37
DNAH17dynein axonemal heavy chain 1717Rare Single Gene Mutation36
DNAH3dynein axonemal heavy chain 316Rare Single Gene Mutation35
DNERDelta/notch-like EGF repeat containing2Rare Single Gene Mutation, Genetic Association33
DOCK1Dedicator of cytokinesis 110Rare Single Gene Mutation33
DOCK4Dedicator of cytokinesis 47Rare Single Gene Mutation, Genetic Association, Functional39
DPP3dipeptidyl peptidase 311Rare Single Gene Mutation33
DPP4Dipeptidyl-peptidase 42Rare Single Gene Mutation, Genetic Association36
DPP6dipeptidyl-peptidase 67Rare Single Gene Mutation, Genetic Association, Functional325
DPYDdihydropyrimidine dehydrogenase1Rare Single Gene Mutation, Syndromic, Genetic Association313
DPYSL3dihydropyrimidinase like 35Rare Single Gene Mutation32
DRD2Dopamine receptor D211Rare Single Gene Mutation, Genetic Association36
DRD3dopamine receptor D33Rare Single Gene Mutation, Genetic Association38
DSTDystonin6Rare Single Gene Mutation37
DUSP15dual specificity phosphatase 1520Rare Single Gene Mutation, Genetic Association34
DVL3Dishevelled segment polarity protein 33Rare Single Gene Mutation, Functional33
DYDC1DPY30 domain containing 110Rare Single Gene Mutation32
DYDC2DPY30 domain containing 21031
DLX2distal-less homeobox 22Genetic Association311
DRD1Dopamine receptor D15Genetic Association, Functional34
EGR3early growth response 38Rare Single Gene Mutation32
EIF4Eeukaryotic translation initiation factor 4E4Rare Single Gene Mutation, Genetic Association312
ELAVL2ELAV like neuron-specific RNA binding protein 29Rare Single Gene Mutation, Genetic Association, Functional36
ELOVL2ELOVL fatty acid elongase 26Genetic Association31
EN2engrailed homolog 27Rare Single Gene Mutation, Genetic Association, Functional323
EIF4G1eukaryotic translation initiation factor 4 gamma 13Rare Single Gene Mutation, Functional32
EPC2Enhancer of polycomb homolog 2 (Drosophila)2Rare Single Gene Mutation34
EPHB2EPH receptor B21Rare Single Gene Mutation34
EPPK1epiplakin 18Rare Single Gene Mutation35
ERGERG, ETS transcription factor21Genetic Association31
ERMNermin2Rare Single Gene Mutation31
ESR2estrogen receptor 2 (ER beta)14Rare Single Gene Mutation, Syndromic, Genetic Association39
ESRRBestrogen-related receptor beta14Rare Single Gene Mutation, Genetic Association37
EXOC3exocyst complex component 35Rare Single Gene Mutation31
EXOC5exocyst complex component 514Rare Single Gene Mutation32
EXOC6exocyst complex component 610Rare Single Gene Mutation31
EXOC6Bexocyst complex component 6B2Rare Single Gene Mutation34
EXT1Exostosin 18Rare Single Gene Mutation, Genetic Association36
FABP5fatty acid binding protein 5 (psoriasis-associated)8Rare Single Gene Mutation, Functional37
FAM47Afamily with sequence similarity 47 member AXRare Single Gene Mutation31
FAM98Cfamily with sequence similarity 98 member C19Rare Single Gene Mutation32
FAN1FANCD2/FANCI-associated nuclease 115Rare Single Gene Mutation31
FAT1FAT atypical cadherin 14Rare Single Gene Mutation35
FBXO11F-box protein 112Rare Single Gene Mutation, Syndromic3S6
FBXO40F-box protein 403Rare Single Gene Mutation, Genetic Association34
FCRL6Fc receptor like 61Rare Single Gene Mutation34
FEZF2FEZ family zinc finger 23Rare Single Gene Mutation, Genetic Association39
FGAFibrinogen alpha chain4Rare Single Gene Mutation, Genetic Association32
FHITfragile histidine triad gene3Rare Single Gene Mutation, Genetic Association312
FRKfyn-related kinase6Rare Single Gene Mutation, Genetic Association33
GABBR2gamma-aminobutyric acid type B receptor subunit 29Rare Single Gene Mutation, Syndromic, Functional3S11
GABRA4gamma-aminobutyric acid (GABA) A receptor, alpha 44Rare Single Gene Mutation, Genetic Association, Functional37
GALNT13polypeptide N-acetylgalactosaminyltransferase 132Rare Single Gene Mutation34
GALNT14polypeptide N-acetylgalactosaminyltransferase 142Rare Single Gene Mutation, Genetic Association35
GDAguanine deaminase9Rare Single Gene Mutation, Genetic Association32
FBXO33F-box protein 3314Genetic Association33
GAS2Growth arrest-specific 211Genetic Association31
GLIS1GLIS family zinc finger 11Rare Single Gene Mutation, Genetic Association32
GLO1glyoxalase I6Rare Single Gene Mutation, Genetic Association310
GLRA2glycine receptor, alpha 2XRare Single Gene Mutation, Functional315
GNASGNAS complex locus20Rare Single Gene Mutation38
GNB1Lguanine nucleotide binding protein (G protein), beta polypeptide 1-like22Rare Single Gene Mutation, Genetic Association32
GPC6glypican 613Rare Single Gene Mutation, Genetic Association38
GPD2glycerol-3-phosphate dehydrogenase 22Rare Single Gene Mutation, Genetic Association34
GPR37G protein-coupled receptor 377Rare Single Gene Mutation32
GPR85G protein-coupled receptor 857Rare Single Gene Mutation, Genetic Association34
GPX1glutathione peroxidase 13Genetic Association35
GRID2glutamate receptor, ionotropic, delta 24Rare Single Gene Mutation, Syndromic, Genetic Association39
GRID2IPGrid2 interacting protein7Rare Single Gene Mutation34
GRIK3glutamate ionotropic receptor kainate type subunit 31Rare Single Gene Mutation, Genetic Association36
GRIK4Glutamate receptor, ionotropic, kainate 411Rare Single Gene Mutation, Functional35
GRM5glutamate metabotropic receptor 511Rare Single Gene Mutation, Genetic Association, Functional37
GRM7Glutamate receptor, metabotropic 73Rare Single Gene Mutation, Genetic Association313
GTF2Igeneral transcription factor IIi7Rare Single Gene Mutation, Genetic Association36
GUCY1A2guanylate cyclase 1 soluble subunit alpha 211Rare Single Gene Mutation, Genetic Association32
HDAC4histone deacetylase 42Rare Single Gene Mutation, Syndromic, Genetic Association3S16
H2BC11H2B clustered histone 116Rare Single Gene Mutation33
HLA-DPB1major histocompatibility complex, class II, DP beta 16Rare Single Gene Mutation, Genetic Association32
HOMER1Homer homolog 1 (Drosophila)5Rare Single Gene Mutation, Functional35
HTR1B5-hydroxytryptamine (serotonin) receptor 1B6Rare Single Gene Mutation, Genetic Association36
HTR3A5-hydroxytryptamine (serotonin) receptor 3A11Rare Single Gene Mutation, Genetic Association, Functional37
HTR3C5-hydroxytryptamine (serotonin) receptor 3, family member C3Rare Single Gene Mutation, Genetic Association36
HYDINHYDIN, axonemal central pair apparatus protein16Rare Single Gene Mutation, Genetic Association33
IL1R2interleukin 1 receptor, type II2Rare Single Gene Mutation36
IL1RAPL1interleukin 1 receptor accessory protein-like 1XRare Single Gene Mutation322
IL1RAPL2interleukin 1 receptor accessory protein-like 2XRare Single Gene Mutation, Genetic Association32
IMMP2LIMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)7Rare Single Gene Mutation, Genetic Association, Functional314
INPP1inositol polyphosphate-1-phosphatase2Rare Single Gene Mutation, Genetic Association34
IQGAP3IQ motif containing GTPase activating protein 31Rare Single Gene Mutation34
ITPR1inositol 1,4,5-trisphosphate receptor type 13Rare Single Gene Mutation39
ITSN1intersectin 121Rare Single Gene Mutation34
JMJD1Cjumonji domain containing 1C10Rare Single Gene Mutation39
KANK1KN motif and ankyrin repeat domains 19Rare Single Gene Mutation39
KATNAL1katanin catalytic subunit A1 like 113Rare Single Gene Mutation, Functional32
KCNC1potassium voltage-gated channel subfamily C member 111Rare Single Gene Mutation35
KCND2potassium voltage-gated channel subfamily D member 27Rare Single Gene Mutation, Genetic Association36
KCND3potassium voltage-gated channel subfamily D member 31Rare Single Gene Mutation, Syndromic, Genetic Association38
KCNJ15potassium voltage-gated channel subfamily J member 1521Rare Single Gene Mutation33
KCNK7potassium two pore domain channel subfamily K member 711Rare Single Gene Mutation32
KCNMA1potassium large conductance calcium-activated channel, subfamily M, alpha member 110Rare Single Gene Mutation, Syndromic322
KCTD13Potassium channel tetramerisation domain containing 1316Rare Single Gene Mutation, Functional37
KDM1Blysine demethylase 1B6Rare Single Gene Mutation32
KDM4Blysine demethylase 4B19Rare Single Gene Mutation, Functional33
KHDRBS2KH domain containing, RNA binding, signal transduction associated 26Rare Single Gene Mutation33
GSTM1glutathione S-transferase M11Genetic Association33
HLA-Amajor histocompatibility complex, class I, A6Genetic Association310
HLA-BMajor histocompatibility complex, class I, B6Genetic Association35
HLA-DRB1major histocompatibility complex, class II, DR beta 16Genetic Association311
KIF13BKinesin family member 13B8Rare Single Gene Mutation33
KIF5CKinesin family member 5C2Rare Single Gene Mutation, Syndromic3S8
KLF16Kruppel like factor 1619Rare Single Gene Mutation31
HLA-Gmajor histocompatibility complex, class I, G6Genetic Association34
HS3ST5heparan sulfate (glucosamine) 3-O-sulfotransferase 56Genetic Association37
HSD11B1hydroxysteroid (11-beta) dehydrogenase 11Syndromic38
KRR1KRR1, small subunit (SSU) processome component, homolog (yeast)12Rare Single Gene Mutation, Genetic Association32
KRT26keratin 2617Rare Single Gene Mutation32
LAMA1Laminin, alpha 118Rare Single Gene Mutation, Genetic Association37
LEPLeptin7Rare Single Gene Mutation31
LILRB2leukocyte immunoglobulin like receptor B219Rare Single Gene Mutation32
LIN7Blin-7 homolog B, crumbs cell polarity complex component19Rare Single Gene Mutation32
LRBALPS-responsive vesicle trafficking, beach and anchor containing4Rare Single Gene Mutation36
LRFN2leucine rich repeat and fibronectin type III domain containing 26Rare Single Gene Mutation, Genetic Association, Functional34
LRFN5leucine rich repeat and fibronectin type III domain containing 514Rare Single Gene Mutation, Genetic Association36
LRP2LDL receptor related protein 22Rare Single Gene Mutation, Syndromic, Genetic Association312
LRRC1leucine rich repeat containing 16Rare Single Gene Mutation, Genetic Association36
LRRC4leucine rich repeat containing 47Rare Single Gene Mutation, Functional33
MAOAmonoamine oxidase AXRare Single Gene Mutation, Syndromic, Genetic Association, Functional316
MAOBmonoamine oxidase BXRare Single Gene Mutation, Genetic Association, Functional35
MAPK3mitogen-activated protein kinase 316Rare Single Gene Mutation, Functional35
MARK1microtubule affinity regulating kinase 11Rare Single Gene Mutation, Genetic Association310
MBD1methyl-CpG binding domain protein 118Rare Single Gene Mutation37
MBD3methyl-CpG binding domain protein 319Rare Single Gene Mutation34
MBD4methyl-CpG binding domain protein 43Rare Single Gene Mutation37
MBD6Methyl-CpG binding domain protein 612Rare Single Gene Mutation31
MCM4minichromosome maintenance complex component 48Rare Single Gene Mutation32
MCM6minichromosome maintenance complex component 62Rare Single Gene Mutation32
MCPH1microcephalin 18Rare Single Gene Mutation316
MDGA2MAM domain containing glycosylphosphatidylinositol anchor 214Rare Single Gene Mutation, Genetic Association38
LZTS2leucine zipper, putative tumor suppressor 210Genetic Association34
MED12Lmediator complex subunit 12L3Rare Single Gene Mutation, Syndromic3S4
MEF2Cmyocyte enhancer factor 2C5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional3S34
MEGF10multiple EGF like domains 105Rare Single Gene Mutation, Genetic Association36
MEGF11multiple EGF like domains 1115Rare Single Gene Mutation35
MEMO1mediator of cell motility 12Rare Single Gene Mutation, Functional32
MIB1Mindbomb E3 ubiquitin protein ligase 118Rare Single Gene Mutation38
MLANAmelan-A9Rare Single Gene Mutation33
MNTMAX network transcriptional repressor17Genetic Association31
MPP6membrane palmitoylated protein 67Rare Single Gene Mutation33
MSANTD2Myb/SANT DNA binding domain containing 211Rare Single Gene Mutation31
MSR1macrophage scavenger receptor 18Rare Single Gene Mutation33
METTL26methyltransferase like 2616Rare Single Gene Mutation32
MRTFBmyocardin related transcription factor B16Rare Single Gene Mutation, Genetic Association310
MTF1metal-regulatory transcription factor 11Syndromic, Genetic Association34
MTHFRmethylenetetrahydrofolate reductase (NAD(P)H)1Rare Single Gene Mutation, Syndromic, Genetic Association317
MUC12mucin 12, cell surface associated7Rare Single Gene Mutation32
MUC4mucin 4, cell surface associated3Rare Single Gene Mutation37
MYH4Myosin, heavy chain 4, skeletal muscle17Rare Single Gene Mutation35
MYO16myosin XVI13Rare Single Gene Mutation, Genetic Association38
MYO1Emyosin IE15Rare Single Gene Mutation34
MYO5Cmyosin VC15Rare Single Gene Mutation33
NAALADL2N-acetylated alpha-linked acidic dipeptidase-like 23Rare Single Gene Mutation, Genetic Association32
NCKAP5NCK-associated protein 52Rare Single Gene Mutation31
NEGR1neuronal growth regulator 11Rare Single Gene Mutation, Genetic Association, Functional36
NEO1Neogenin 11531
NFIAnuclear factor I/A1Rare Single Gene Mutation311
NFIBnuclear factor I B9Rare Single Gene Mutation, Syndromic3S5
NIPA1non imprinted in Prader-Willi/Angelman syndrome 115Rare Single Gene Mutation35
NIPA2non imprinted in Prader-Willi/Angelman syndrome 215Rare Single Gene Mutation32
NLGN4Yneuroligin 4, Y-linkedYRare Single Gene Mutation, Genetic Association, Functional35
NR1D1nuclear receptor subfamily 1 group D member 117Rare Single Gene Mutation33
NR2F1nuclear receptor subfamily 2 group F member 15Rare Single Gene Mutation, Syndromic3S14
NDUFA5NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa7Genetic Association33
NOTCH2NLnotch 2 N-terminal like1Functional31
NPAS2neuronal PAS domain protein 22Genetic Association34
NRCAMneuronal cell adhesion molecule7Rare Single Gene Mutation, Genetic Association35
NRP2neuropilin 22Rare Single Gene Mutation, Genetic Association38
NTNG1netrin G11Rare Single Gene Mutation, Syndromic, Genetic Association3S8
NTRK1neurotrophic tyrosine kinase, receptor, type 11Rare Single Gene Mutation, Syndromic38
NTRK3neurotrophic tyrosine kinase, receptor, type 315Rare Single Gene Mutation, Syndromic, Genetic Association313
NUP133nucleoporin 133kDa1Rare Single Gene Mutation34
NXPH1neurexophilin 17Rare Single Gene Mutation35
ODF3L2outer dense fiber of sperm tails 3-like 219Rare Single Gene Mutation31
OFD1OFD1, centriole and centriolar satellite proteinXRare Single Gene Mutation32
OR1C1olfactory receptor, family 1, subfamily C, member 11Rare Single Gene Mutation33
OR2T10olfactory receptor family 2 subfamily T member 101Rare Single Gene Mutation33
OXToxytocin/neurophysin I prepropeptide20Rare Single Gene Mutation, Genetic Association35
NSMCE3NSE3 homolog, SMC5-SMC6 complex component15Functional33
PAFAH1B2platelet activating factor acetylhydrolase 1b catalytic subunit 211Rare Single Gene Mutation33
PAPOLGpoly(A) polymerase gamma2Rare Single Gene Mutation34
PBX1PBX homeobox 11Rare Single Gene Mutation34
PATJPATJ, crumbs cell polarity complex component1Rare Single Gene Mutation33
PCDH10protocadherin 104Rare Single Gene Mutation38
PCDH11Xprotocadherin 11 X-linkedXRare Single Gene Mutation32
PCDH15protocadherin related 1510Rare Single Gene Mutation, Syndromic, Genetic Association35
PCDH9protocadherin 913Rare Single Gene Mutation, Genetic Association37
PCDHA1Protocadherin alpha 15Rare Single Gene Mutation, Genetic Association33
PCDHA10Protocadherin alpha 105Rare Single Gene Mutation, Genetic Association34
PCDHA11Protocadherin alpha 115Rare Single Gene Mutation, Genetic Association35
PCDHA12Protocadherin alpha 125Rare Single Gene Mutation, Genetic Association33
PCDHA13Protocadherin alpha 135Rare Single Gene Mutation, Genetic Association34
PCDHA2Protocadherin alpha 25Rare Single Gene Mutation, Genetic Association35
PCDHA3Protocadherin alpha 35Rare Single Gene Mutation, Genetic Association33
PCDHA4Protocadherin alpha 45Rare Single Gene Mutation, Genetic Association34
PCDHA5Protocadherin alpha 55Rare Single Gene Mutation, Genetic Association35
PCDHA6Protocadherin alpha 65Rare Single Gene Mutation, Genetic Association33
PCDHA7Protocadherin alpha 75Rare Single Gene Mutation, Genetic Association35
PCDHA8Protocadherin alpha 85Rare Single Gene Mutation, Genetic Association34
PCDHA9Protocadherin alpha 95Rare Single Gene Mutation, Genetic Association34
PCDHAC1Protocadherin alpha subfamily C, 15Rare Single Gene Mutation, Genetic Association33
PCM1pericentriolar material 18Rare Single Gene Mutation33
PDCD1programmed cell death 12Rare Single Gene Mutation33
PDE1Cphosphodiesterase 1C7Rare Single Gene Mutation, Genetic Association33
PDK2pyruvate dehydrogenase kinase 217Rare Single Gene Mutation34
PER1period homolog 1 (Drosophila)17Rare Single Gene Mutation, Genetic Association37
PEX7peroxisomal biogenesis factor 76Rare Single Gene Mutation, Genetic Association33
PITX1paired-like homeodomain 15Rare Single Gene Mutation, Genetic Association36
PLAURPlasminogen activator, urokinase receptor19Rare Single Gene Mutation, Genetic Association32
PLCD4phospholipase C delta 42Rare Single Gene Mutation33
PLNphospholamban6Rare Single Gene Mutation34
PLXNA3plexin A3XRare Single Gene Mutation33
PNPLA7patatin like phospholipase domain containing 79Rare Single Gene Mutation33
POLA2DNA polymerase alpha 2, accessory subunit11Rare Single Gene Mutation32
POMT1protein O-mannosyltransferase 19Rare Single Gene Mutation32
POT1Protection of telomeres 1 homolog (S. pombe)7Rare Single Gene Mutation31
PPFIA1PTPRF interacting protein alpha 111Rare Single Gene Mutation33
PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D17Rare Single Gene Mutation, Syndromic3S6
PPP2R1Bprotein phosphatase 2 regulatory subunit A, beta11Rare Single Gene Mutation37
PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta7Rare Single Gene Mutation34
PRKCAprotein kinase C alpha17Rare Single Gene Mutation34
PRKDCprotein kinase, DNA-activated, catalytic polypeptide8Rare Single Gene Mutation, Syndromic, Functional36
PRPF39pre-mRNA processing factor 3914Rare Single Gene Mutation33
PRUNE2prune homolog 29Rare Single Gene Mutation, Syndromic39
OR2M4Olfactory receptor, family 2, subfamily M, member 41Genetic Association31
OTX1orthodenticle homeobox 12Genetic Association33
PCDHAC2Protocadherin alpha subfamily C, 25Genetic Association33
PIK3CGphosphoinositide-3-kinase, catalytic, gamma polypeptide7Genetic Association34
PPP1R1BProtein phosphatase 1, regulatory (inhibitor) subunit 1B17Genetic Association31
PSD3pleckstrin and Sec7 domain containing 38Rare Single Gene Mutation, Genetic Association35
PTBP2polypyrimidine tract binding protein 21Rare Single Gene Mutation, Genetic Association34
PTGS2prostaglandin-endoperoxide synthase 21Rare Single Gene Mutation, Genetic Association, Functional37
PTPRBprotein tyrosine phosphatase, receptor type B12Rare Single Gene Mutation, Genetic Association33
PTPRCprotein tyrosine phosphatase, receptor type, C1Rare Single Gene Mutation, Genetic Association39
PTPRTprotein tyrosine phosphatase, receptor type, T20Rare Single Gene Mutation, Functional39
PXDNperoxidasin2Rare Single Gene Mutation35
RAB11FIP5RAB11 family interacting protein 52Rare Single Gene Mutation35
RAB39BRAB39B, member RAS oncogene familyXRare Single Gene Mutation, Functional313
RAD21L1RAD21 cohesin complex component like 120Rare Single Gene Mutation32
RAPGEF4Rap guanine nucleotide exchange factor (GEF) 42Rare Single Gene Mutation317
RASSF5Ras association domain family member 51Rare Single Gene Mutation, Genetic Association33
REEP3receptor accessory protein 310Rare Single Gene Mutation33
RGS7regulator of G-protein signaling 71Rare Single Gene Mutation36
RIMS3regulating synaptic membrane exocytosis 31Rare Single Gene Mutation34
RNF135Ring finger protein 13517Rare Single Gene Mutation, Syndromic, Genetic Association3S4
RNF25ring finger protein 252Rare Single Gene Mutation32
RNF38ring finger protein 389Rare Single Gene Mutation32
RPL10ribosomal protein L10XRare Single Gene Mutation, Syndromic313
RPS6KA2ribosomal protein S6 kinase, 90kDa, polypeptide 26Rare Single Gene Mutation34
RPS6KA3Ribosomal protein S6 kinase, 90kDa, polypeptide 3XRare Single Gene Mutation, Syndromic3S9
SAMD11sterile alpha motif domain containing 111Rare Single Gene Mutation32
SASH1SAM and SH3 domain containing 16Rare Single Gene Mutation32
SATB2SATB homeobox 22Rare Single Gene Mutation, Syndromic, Genetic Association3S28
SCFD2sec1 family domain containing 24Rare Single Gene Mutation32
RP11-1407O15.217Rare Single Gene Mutation31
RHOXF1Rhox homeobox family, member 1XGenetic Association33
RIT2Ras-like without CAAX 218Genetic Association33
SCN4ASodium channel, voltage gated, type IV alpha subunit17Rare Single Gene Mutation34
SCP2sterol carrier protein 21Rare Single Gene Mutation32
SDC2syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated, fibroglycan )8Rare Single Gene Mutation, Genetic Association34
SETD1BSET domain containing 1B12Rare Single Gene Mutation, Syndromic3S9
SETDB1SET domain, bifurcated 11Rare Single Gene Mutation33
SETDB2SET domain, bifurcated 213Rare Single Gene Mutation, Syndromic32
SEZ6L2SEZ6L2 seizure related 6 homolog (mouse)-like 216Rare Single Gene Mutation, Genetic Association36
SF3B1splicing factor 3b subunit 12Rare Single Gene Mutation34
SGSM3Small G protein signaling modulator 322Rare Single Gene Mutation35
SH3RF3SH3 domain containing ring finger 32Rare Single Gene Mutation32
SLC1A1solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 19Rare Single Gene Mutation, Genetic Association312
SLC22A9solute carrier family 22 member 911Rare Single Gene Mutation34
SLC24A2solute carrier family 24 member 29Rare Single Gene Mutation33
SLC25A12solute carrier family 25 (mitochondrial carrier, Aralar), member 122Rare Single Gene Mutation, Genetic Association, Functional321
SLC25A39solute carrier family 25 member 3917Rare Single Gene Mutation33
SLC27A4Solute carrier family 27 (fatty acid transporter), member 49Rare Single Gene Mutation31
SLC29A4solute carrier family 29 member 47Rare Single Gene Mutation31
SLC4A10solute carrier family 4, sodium bicarbonate transporter-like, member 102Rare Single Gene Mutation, Genetic Association36
SERPINE1serpin family E member 17Genetic Association32
SLC22A15Solute carrier family 22, member 151Genetic Association31
SLC6A4solute carrier family 6 (neurotransmitter transporter, serotonin), member 417Rare Single Gene Mutation, Genetic Association326
SLC6A8solute carrier family 6 (neurotransmitter transporter, creatine), member 8XRare Single Gene Mutation, Syndromic314
SLC7A7solute carrier family 7 member 714Rare Single Gene Mutation33
SLC25A27solute carrier family 25 member 276Genetic Association31
SLC9A9solute carrier family 9 (sodium/hydrogen exchanger), member 93Rare Single Gene Mutation, Genetic Association, Functional312
SLCO1B3Solute carrier organic anion transporter family, member 1B312Rare Single Gene Mutation34
SMC3structural maintenance of chromosomes 310Rare Single Gene Mutation, Syndromic3S9
SMG6SMG6, nonsense mediated mRNA decay factor17Rare Single Gene Mutation32
SMURF1SMAD specific E3 ubiquitin protein ligase 17Rare Single Gene Mutation32
SNAP25Synaptosomal-associated protein, 25kDa20Rare Single Gene Mutation, Genetic Association36
SND1staphylococcal nuclease and tudor domain containing 17Rare Single Gene Mutation, Genetic Association38
SNTG2syntrophin gamma 22Rare Single Gene Mutation36
SOD1superoxide dismutase 121Genetic Association, Functional32
SPP2secreted phosphoprotein 22Rare Single Gene Mutation34
SRGAP3SLIT-ROBO Rho GTPase activating protein 33Rare Single Gene Mutation35
SSPOSCO-spondin7Rare Single Gene Mutation34
SSRP1structure specific recognition protein 111Rare Single Gene Mutation32
ST7suppression of tumorigenicity 77Rare Single Gene Mutation34
STX1ASyntaxin 1A (brain)7Rare Single Gene Mutation, Genetic Association36
STYK1Serine/threonine/tyrosine kinase 112Rare Single Gene Mutation, Genetic Association32
SYAP1Synapse associated protein 1XRare Single Gene Mutation32
SYN1Synapsin 1XRare Single Gene Mutation, Functional321
SYN2Synapsin II3Rare Single Gene Mutation, Genetic Association, Functional36
SYNCRIPsynaptotagmin binding cytoplasmic RNA interacting protein6Rare Single Gene Mutation36
SYNE1spectrin repeat containing, nuclear envelope 16Rare Single Gene Mutation, Genetic Association3S16
STK39serine threonine kinase 39 (STE20/SPS1 homolog, yeast)2Genetic Association35
SYNJ1synaptojanin 121Rare Single Gene Mutation31
SYT17synaptotagmin XVII16Genetic Association32
TAF1CTATA-box binding protein associated factor, RNA polymerase I subunit C16Rare Single Gene Mutation, Genetic Association32
TBC1D5TBC1 domain family, member 53Rare Single Gene Mutation, Genetic Association38
TECTAtectorin alpha11Rare Single Gene Mutation37
THBS1Thrombospondin 115Rare Single Gene Mutation, Genetic Association34
THRAthyroid hormone receptor alpha17Rare Single Gene Mutation, Functional35
TM4SF19transmembrane 4 L six family member 193Rare Single Gene Mutation33
TMEM39Btransmembrane protein 39B1Rare Single Gene Mutation34
TOP3BTopoisomerase (DNA) III beta22Rare Single Gene Mutation, Genetic Association, Functional36
TERB2telomere repeat binding bouquet formation protein 215Rare Single Gene Mutation31
TRIM32tripartite motif containing 329Rare Single Gene Mutation, Functional33
TRRAPtransformation/transcription domain associated protein7Rare Single Gene Mutation, Syndromic3S9
TSPAN17tetraspanin 175Rare Single Gene Mutation33
TSPAN4tetraspanin 411Rare Single Gene Mutation34
TSPAN7tetraspanin 7XRare Single Gene Mutation37
TTNtitin2Rare Single Gene Mutation, Syndromic3S22
TUBGCP5tubulin, gamma complex associated protein 515Rare Single Gene Mutation34
TSPOAP1TSPO associated protein 117Rare Single Gene Mutation35
UIMC1ubiquitin interaction motif containing 15Rare Single Gene Mutation33
UNC13Aunc-13 homolog A19Rare Single Gene Mutation, Syndromic3S6
UNC80unc-80 homolog, NALCN activator2Rare Single Gene Mutation35
UPF2UPF2, regulator of nonsense mediated mRNA decay10Rare Single Gene Mutation, Functional38
USH2Ausherin1Rare Single Gene Mutation36
TBL1Xtransducin (beta)-like 1X-linkedXGenetic Association31
TDO2tryptophan 2,3-dioxygenase4Genetic Association34
TPOThyroid peroxidase2Genetic Association31
TRIM33Tripartite motif containing 331Genetic Association31
TTC25tetratricopeptide repeat domain 2517Genetic Association31
UBE2Hubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)7Genetic Association32
USP9Yubiquitin specific peptidase 9, Y-linkedYRare Single Gene Mutation, Genetic Association32
VASH1vasohibin 114Genetic Association34
VDRvitamin D receptor12Genetic Association, Functional310
VSIG4V-set and immunoglobulin domain containing 4XRare Single Gene Mutation32
WNK3WNK lysine deficient protein kinase 3XRare Single Gene Mutation36
WNT1Wingless-type MMTV integration site family, member 112Genetic Association33
XPO1exportin 12Rare Single Gene Mutation, Genetic Association37
YEATS2YEATS domain containing 23Rare Single Gene Mutation, Genetic Association32
YTHDC2YTH domain containing 25Rare Single Gene Mutation, Genetic Association35
YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon17Rare Single Gene Mutation35
ZBTB16Zinc finger and BTB domain containing 1611Genetic Association31
ZC3H11Azinc finger CCCH-type containing 11A1Rare Single Gene Mutation33
ZFYVE26zinc finger FYVE-type containing 2614Rare Single Gene Mutation34
YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma7Rare Single Gene Mutation, Syndromic3S6
ZNF18zinc finger protein 1817Rare Single Gene Mutation31
ZNF385BZinc finger protein 385B2Genetic Association32
ZNF517Zinc finger protein 5178Rare Single Gene Mutation33
ZNF548zinc finger protein 54819Rare Single Gene Mutation33
ZNF559Zinc finger protein 55919Rare Single Gene Mutation36
ZNF626zinc finger protein 62619Rare Single Gene Mutation32
ZNF713Zinc finger protein 7137Rare Single Gene Mutation32
ZNF774Zinc finger protein 77415Rare Single Gene Mutation33
ZNF827Zinc finger protein 8274Genetic Association31
ZWILCHzwilchkinetochore protein15Rare Single Gene Mutation34
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SFARI Gene Update

We are pleased to announce some changes to the ongoing curation of the data in SFARI Gene. In the context of a continued effort to develop the human gene module and its manually curated list of autism risk genes, we are modifying other aspects of the site to focus on the information that is of greatest interest to the research community. The version of SFARI Gene that has been developed until now will be frozen and will remain available as “SFARI Gene Archive”. Please see the announcement for more details.
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