Autism Spectrum Disorder
133 entitiesCurated risk genes from SFARI Gene (Cat 1 + Syndromic).
SFARI GeneUniProt
Genes & proteins
- ADNPActivity-dependent neuroprotector homeobox proteinsfari:1sfari:syndromic
- AFF2AF4/FMR2 family member 2sfari:Ssfari:syndromic
- ANK2Ankyrin-2ad:direction:downsfari:1
- ANKRD11Ankyrin repeat domain-containing protein 11sfari:Ssfari:syndromic
- ANKS1BAnkyrin repeat and sterile alpha motif domain-containing protein 1Bsfari:2
- ARID1AAT-rich interactive domain-containing protein 1Asfari:Ssfari:syndromic
- ARID1BAT-rich interactive domain-containing protein 1Bsfari:1sfari:syndromic
- ARXHomeobox protein ARXsfari:Ssfari:syndromic
- ASH1LHistone-lysine N-methyltransferase ASH1Lsfari:1
- ASXL3Putative Polycomb group protein ASXL3sfari:1sfari:syndromic
- ATRXTranscriptional regulator ATRXsfari:Ssfari:syndromic
- AUTS2Autism susceptibility gene 2 proteinsfari:Ssfari:syndromic
- BCL11ABCL11 transcription factor Asfari:1sfari:syndromic
- BRAFSerine/threonine-protein kinase B-rafad:direction:downsfari:Ssfari:syndromic
- CACNA1CVoltage-dependent L-type calcium channel subunit alpha-1Csfari:Ssfari:syndromic
- CACNA2D3Voltage-dependent calcium channel subunit alpha-2/delta-3ad:direction:downsfari:2
- CDKL5Cyclin-dependent kinase-like 5sfari:Ssfari:syndromic
- CHD2ATP-dependent chromatin remodeler CHD2sfari:1sfari:syndromic
- CHD7ATP-dependent chromatin remodeler CHD7sfari:2sfari:syndromic
- CHD8ATP-dependent chromatin remodeler CHD8sfari:1
- CNTNAP2Contactin-associated protein-like 2sfari:2sfari:syndromic
- CREBBPCREB-binding proteinsfari:Ssfari:syndromic
- CSN3Kappa-caseinsfari:Ssfari:syndromic
- CTCFTranscriptional repressor CTCFsfari:2sfari:syndromic
- CTNNB1Catenin beta-1ad:direction:downsfari:1sfari:syndromic
- CUL3Cullin-3sfari:1
- DEAF1Deformed epidermal autoregulatory factor 1 homologsfari:1sfari:syndromic
- DLG2Disks large homolog 2sfari:2
- DLG4Disks large homolog 4ad:direction:downsfari:Ssfari:syndromic
- DMDDystrophinsfari:Ssfari:syndromic
- DSCAMCell adhesion molecule DSCAMsfari:1
- DYRK1ADual specificity tyrosine-phosphorylation-regulated kinase 1Asfari:1sfari:syndromic
- EHMT1Histone-lysine N-methyltransferase EHMT1sfari:Ssfari:syndromic
- EIF3FEukaryotic translation initiation factor 3 subunit Fad:direction:upsfari:2
- ELAVL3ELAV-like protein 3sfari:2
- EP300Histone acetyltransferase p300sfari:Ssfari:syndromic
- FMR1Fragile X messenger ribonucleoprotein 1ad:direction:upsfari:Ssfari:syndromic
- FOXG1Forkhead box protein G1sfari:Ssfari:syndromic
- FOXP1Forkhead box protein P1sfari:1sfari:syndromic
- FOXP2Forkhead box protein P2sfari:2sfari:syndromic
- GABRB3Gamma-aminobutyric acid receptor subunit beta-3ad:direction:downsfari:2sfari:syndromic
- GIGYF1GRB10-interacting GYF protein 1ad:direction:downsfari:1
- GNAI1Guanine nucleotide-binding protein G(i) subunit alpha-1sfari:2
- GRIN2BGlutamate receptor ionotropic, NMDA 2Bsfari:1sfari:syndromic
- HNRNPH2Heterogeneous nuclear ribonucleoprotein H2ad:direction:downsfari:2sfari:syndromic
- HRASGTPase HRasad:direction:downsfari:Ssfari:syndromic
- KCNMA1Calcium-activated potassium channel subunit alpha-1sfari:2sfari:syndromic
- KCNQ3Potassium voltage-gated channel subfamily KQT member 3sfari:2sfari:syndromic
- KDM5BLysine-specific demethylase 5Bsfari:1
- KDM6ALysine-specific demethylase 6Asfari:Ssfari:syndromic
- KDM6BLysine-specific demethylase 6Bsfari:1sfari:syndromic
- KMT2AHistone-lysine N-methyltransferase 2Asfari:Ssfari:syndromic
- KMT2CHistone-lysine N-methyltransferase 2Csfari:1sfari:syndromic
- KMT2DHistone-lysine N-methyltransferase 2Dsfari:Ssfari:syndromic
- KMT5BHistone-lysine N-methyltransferase KMT5Bsfari:1
- KRASGTPase KRassfari:Ssfari:syndromic
- MAGEL2MAGE-like protein 2sfari:Ssfari:syndromic
- MAP1AMicrotubule-associated protein 1Asfari:2
- MAP2K1Dual specificity mitogen-activated protein kinase kinase 1ad:direction:downsfari:Ssfari:syndromic
- MAP2K2Dual specificity mitogen-activated protein kinase kinase 2sfari:Ssfari:syndromic
- MBD5Methyl-CpG-binding domain protein 5sfari:1sfari:syndromic
- MECP2Methyl-CpG-binding protein 2sfari:Ssfari:syndromic
- MED13LMediator of RNA polymerase II transcription subunit 13-likesfari:1sfari:syndromic
- MEF2CMyocyte-specific enhancer factor 2Csfari:Ssfari:syndromic
- MYT1LMyelin transcription factor 1-like proteinsfari:1sfari:syndromic
- NDNNecdinsfari:Ssfari:syndromic
- NF1Neurofibrominad:direction:downsfari:Ssfari:syndromic
- NLGN3Neuroligin-3sfari:2sfari:syndromic
- NLGN4XNeuroligin-4, X-linkedad:direction:downsfari:2sfari:syndromic
- NRASGTPase NRassfari:Ssfari:syndromic
- NRXN1Neurexin-1-betasfari:1
- NRXN2Neurexin-2-betasfari:2
- NSD1Histone-lysine N-methyltransferase, H3 lysine-36 specificsfari:Ssfari:syndromic
- PCDH19Protocadherin-19sfari:2sfari:syndromic
- PHF12PHD finger protein 12sfari:1
- PHF6PHD finger protein 6sfari:Ssfari:syndromic
- POGZPogo transposable element with ZNF domainsfari:1sfari:syndromic
- PPP2R5DSerine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoformsfari:2sfari:syndromic
- PSMD1226S proteasome non-ATPase regulatory subunit 12sfari:2sfari:syndromic
- PTCHD1Patched domain-containing protein 1sfari:Ssfari:syndromic
- PTENPhosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTENsfari:1sfari:syndromic
- PTPN11Tyrosine-protein phosphatase non-receptor type 11ad:direction:upsfari:Ssfari:syndromic
- PURATranscriptional activator protein Pur-alphaad:direction:downsfari:2sfari:syndromic
- RAF1RAF proto-oncogene serine/threonine-protein kinasesfari:Ssfari:syndromic
- RAI1Retinoic acid-induced protein 1sfari:1sfari:syndromic
- RESTRE1-silencing transcription factorsfari:2
- SATB2DNA-binding protein SATB2sfari:1sfari:syndromic
- SCN1ASodium channel protein type 1 subunit alphasfari:2sfari:syndromic
- SCN2ASodium channel protein type 2 subunit alphaad:direction:downsfari:1sfari:syndromic
- SETBP1SET-binding proteinsfari:Ssfari:syndromic
- SETD2Histone-lysine N-methyltransferase SETD2sfari:2sfari:syndromic
- SETD5Histone-lysine N-methyltransferase SETD5sfari:1sfari:syndromic
- SHANK2SH3 and multiple ankyrin repeat domains protein 2sfari:1
- SHANK3SH3 and multiple ankyrin repeat domains protein 3sfari:1sfari:syndromic
- SIN3APaired amphipathic helix protein Sin3asfari:2sfari:syndromic
- SLC6A1Sodium- and chloride-dependent GABA transporter 1ad:direction:upsfari:1sfari:syndromic
- SMARCA4SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4sfari:Ssfari:syndromic
- SMARCB1SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1sfari:Ssfari:syndromic
- SMARCC2SWI/SNF complex subunit SMARCC2sfari:2sfari:syndromic
- SMARCE1SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1sfari:Ssfari:syndromic
- SNRPNSmall nuclear ribonucleoprotein-associated protein Nsfari:Ssfari:syndromic
- SOS1Son of sevenless homolog 1sfari:Ssfari:syndromic
- SOX11Transcription factor SOX-11sfari:2sfari:syndromic
- SOX5Transcription factor SOX-5sfari:Ssfari:syndromic
- SPASTSpastinsfari:2sfari:syndromic
- SRPRASignal recognition particle receptor subunit alphaad:direction:downsfari:1
- STXBP1Syntaxin-binding protein 1ad:direction:downsfari:1sfari:syndromic
- SYNGAP1Ras/Rap GTPase-activating protein SynGAPsfari:1sfari:syndromic
- TANC2Protein TANC2ad:direction:downsfari:2
- TBL1XR1F-box-like/WD repeat-containing protein TBL1XR1sfari:2sfari:syndromic
- TBR1T-box brain protein 1sfari:1
- TCF20Transcription factor 20sfari:1sfari:syndromic
- TCF4Transcription factor 4sfari:2sfari:syndromic
- TLK2Serine/threonine-protein kinase tousled-like 2sfari:1sfari:syndromic
- TRIOTriple functional domain proteinsfari:1sfari:syndromic
- TRIP12E3 ubiquitin-protein ligase TRIP12sfari:1sfari:syndromic
- TRRAPTransformation/transcription domain-associated proteinsfari:2sfari:syndromic
- TSC1Hamartinsfari:Ssfari:syndromic
- TSC2Tuberinsfari:Ssfari:syndromic
- UBE3AUbiquitin-protein ligase E3Asfari:Ssfari:syndromic
- WACWW domain-containing adapter protein with coiled-coilsfari:1sfari:syndromic
- WDR45WD repeat domain phosphoinositide-interacting protein 4sfari:2sfari:syndromic
- ZBTB20Zinc finger and BTB domain-containing protein 20sfari:2sfari:syndromic
- ZNF462Zinc finger protein 462sfari:2sfari:syndromic
- 27866380IMAGING DIAGNOSIS-ULTRASOUND UNCOMMON FEATURES OF AN ABDOMINAL GOSSYPIBOMA IN A DOG.
- 30804558Identification of common genetic risk variants for autism spectrum disorder.
- 31398340Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
- 30564305Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
- 30104386JUM is a computational method for comprehensive annotation-free analysis of alternative pre-mRNA splicing patterns.
- 31981491Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.
- 29610410Stakeholder Perspectives on Research and Practice in Autism and Transition.
- 25363760Synaptic, transcriptional and chromatin genes disrupted in autism.
- 28263302Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.