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Gene Scoring  /  Category 3   168 genes

Database updated on June 20, 2019

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Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ACHEAcetylcholinesterase (Yt blood group)7Rare Single Gene Mutation34
ADAadenosine deaminase20Rare Single Gene Mutation, Genetic Association36
ADCY3adenylate cyclase 32Rare Single Gene Mutation32
AGAP2ArfGAP with GTPase domain, ankyrin repeat and PH domain 212Rare Single Gene Mutation34
AGO1argonaute 1, RISC catalytic component1Rare Single Gene Mutation37
AKAP9A kinase (PRKA) anchor protein 97Rare Single Gene Mutation34
AMPD1Adenosine monophosphate deaminase 11Rare Single Gene Mutation, Genetic Association33
AMTAminomethyltransferase3Rare Single Gene Mutation31
ANXA1Annexin A19Rare Single Gene Mutation32
APBB1amyloid beta precursor protein binding family B member 111Rare Single Gene Mutation, Functional33
APH1AAPH1A gamma secretase subunit1Rare Single Gene Mutation32
AGO4argonaute RISC catalytic component 41Rare Single Gene Mutation32
ASAP2ArfGAP with SH3 domain, ankyrin repeat and PH domain 22Rare Single Gene Mutation33
ASPMabnormal spindle microtubule assembly1Rare Single Gene Mutation, Syndromic36
ASTN2astrotactin 29Rare Single Gene Mutation, Genetic Association313
ATP10AProbable phospholipid-transporting ATPase VA15Rare Single Gene Mutation, Genetic Association, Functional38
ATP2B2ATPase, Ca++ transporting, plasma membrane 23Rare Single Gene Mutation, Genetic Association39
AVPR1Aarginine vasopressin receptor 1A12Rare Single Gene Mutation, Genetic Association321
BTAF1RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae)10Rare Single Gene Mutation35
CACNA1Ecalcium voltage-gated channel subunit alpha1 E1Rare Single Gene Mutation39
CACNB2Calcium channel, voltage-dependent, beta 2 subunit10Rare Single Gene Mutation, Genetic Association34
CC2D1ACoiled-coil and C2 domain containing 1A19Rare Single Gene Mutation, Functional311
CCT4Chaperonin containing TCP1, subunit 4 (delta)2Rare Single Gene Mutation33
CDC42BPBCDC42 binding protein kinase beta (DMPK-like)14Rare Single Gene Mutation37
CELF4CUGBP, Elav-like family member 418Rare Single Gene Mutation, Functional39
CEP135centrosomal protein 1354Rare Single Gene Mutation, Syndromic36
CGNL1Cingulin-like 115Rare Single Gene Mutation33
CCNG1cyclin G15Rare Single Gene Mutation31
CDH13cadherin 1316Rare Single Gene Mutation32
CHMP1Acharged multivesicular body protein 1A16Rare Single Gene Mutation, Syndromic35
CHRNA7cholinergic receptor, nicotinic, alpha 715Rare Single Gene Mutation313
CIB2Calcium and integrin binding family member 215Rare Single Gene Mutation31
CLASP1cytoplasmic linker associated protein 12Rare Single Gene Mutation33
CNKSR2connector enhancer of kinase suppressor of Ras 2XSyndromic3S4
CNR1cannabinoid receptor 1 (brain)6Rare Single Gene Mutation, Genetic Association37
CNTN5Contactin 511Rare Single Gene Mutation, Genetic Association39
CNTN6Contactin 63Rare Single Gene Mutation, Genetic Association313
CNTNAP4Contactin associated protein-like 416Rare Single Gene Mutation, Functional311
CTTNBP2cortactin binding protein 27Rare Single Gene Mutation, Syndromic37
CUL7Cullin 76Rare Single Gene Mutation34
CPEB4cytoplasmic polyadenylation element binding protein 45Functional31
CYFIP1cytoplasmic FMR1 interacting protein 115Rare Single Gene Mutation, Genetic Association, Functional316
DAPP1Dual adaptor of phosphotyrosine and 3-phosphoinositides4Rare Single Gene Mutation31
DENRdensity-regulated protein12Rare Single Gene Mutation33
DIP2ADIP2 disco-interacting protein 2 homolog A (Drosophila)21Rare Single Gene Mutation35
DISC1disrupted in schizophrenia 11Rare Single Gene Mutation, Syndromic, Genetic Association334
DLGAP1DLG associated protein 118Rare Single Gene Mutation, Functional37
DOCK8dedicator of cytokinesis 89Rare Single Gene Mutation38
DPP10Dipeptidyl-peptidase 102Rare Single Gene Mutation311
DPYSL2dihydropyrimidinase like 28Rare Single Gene Mutation, Genetic Association312
DLX3distal-less homeobox 317Rare Single Gene Mutation32
EFR3AEFR3 homolog A (S. cerevisiae)8Rare Single Gene Mutation35
ELAVL3ELAV like neuron-specific RNA binding protein 319Rare Single Gene Mutation33
ELP4Elongator acetyltransferase complex subunit 411Rare Single Gene Mutation, Genetic Association36
EP400E1A binding protein p40012Rare Single Gene Mutation36
EMSYEMSY, BRCA2 interacting transcriptional repressor11Rare Single Gene Mutation, Functional33
ETFBElectron-transfer-flavoprotein, beta polypeptide19Rare Single Gene Mutation33
FAM92BFamily with sequence similarity 92, member B16Rare Single Gene Mutation33
FBN1Fibrillin 115Rare Single Gene Mutation310
FOXP2forkhead box P27Rare Single Gene Mutation, Genetic Association341
GGNBP2gametogenetin binding protein 217Rare Single Gene Mutation32
GPC4glypican 4XRare Single Gene Mutation32
GPHNGephyrin14Rare Single Gene Mutation38
GRID1Glutamate receptor, ionotropic, delta 110Rare Single Gene Mutation, Genetic Association36
GRIK2glutamate ionotropic receptor kainate type subunit 26Rare Single Gene Mutation, Genetic Association318
GRIK5Glutamate receptor, ionotropic, kainate 519Rare Single Gene Mutation38
GABRG3gamma-aminobutyric acid type A receptor gamma3 subunit15Genetic Association39
GALNT8polypeptide N-acetylgalactosaminyltransferase 812Rare Single Gene Mutation31
HECTD4HECT domain E3 ubiquitin protein ligase 412Rare Single Gene Mutation34
HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 22Rare Single Gene Mutation, Syndromic37
HIVEP3human immunodeficiency virus type I enhancer binding protein 31Rare Single Gene Mutation, Genetic Association35
HMGN1high mobility group nucleosome binding domain 121Genetic Association31
ICA1islet cell autoantigen 17Rare Single Gene Mutation38
ITGB3integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)17Rare Single Gene Mutation, Genetic Association314
JARID2jumonji and AT-rich interaction domain containing 26Rare Single Gene Mutation, Syndromic, Genetic Association311
KAT6AK(lysine) acetyltransferase 6A8Rare Single Gene Mutation, Syndromic3S12
KCNJ10potassium voltage-gated channel subfamily J member 101Rare Single Gene Mutation, Syndromic, Genetic Association311
KCNQ2potassium voltage-gated channel subfamily Q member 220Rare Single Gene Mutation, Syndromic, Genetic Association320
KDM5Clysine demethylase 5CXRare Single Gene Mutation, Syndromic, Functional322
KIAA1586KIAA15866Rare Single Gene Mutation33
KIRREL3Kin of IRRE like 3 (Drosophila)11Rare Single Gene Mutation315
KCNS3potassium voltage-gated channel modifier subfamily S member 32Rare Single Gene Mutation33
KDM4Clysine demethylase 4C9Rare Single Gene Mutation31
KIF14kinesin family member 141Rare Single Gene Mutation, Syndromic34
KMT2ELysine (K)-specific methyltransferase 2E7Rare Single Gene Mutation, Syndromic, Genetic Association37
LAMB1laminin, beta 17Rare Single Gene Mutation, Genetic Association36
LMX1BLIM homeobox transcription factor 1 beta9Genetic Association31
MFRPMembrane frizzled-related protein11Rare Single Gene Mutation36
MYO5Amyosin VA15Rare Single Gene Mutation, Genetic Association34
MIR137microRNA 1371Rare Single Gene Mutation, Syndromic, Genetic Association, Functional310
MYO9BMyosin IXB19Rare Single Gene Mutation34
NAV2neuron navigator 211Rare Single Gene Mutation39
NINLNinein-like20Rare Single Gene Mutation34
NLGN1neuroligin 13Rare Single Gene Mutation, Genetic Association317
NR3C2Nuclear receptor subfamily 3, group C, member 24Rare Single Gene Mutation34
MYH10myosin heavy chain 1017Rare Single Gene Mutation35
NFE2L3nuclear factor, erythroid 2 like 37Rare Single Gene Mutation33
NUAK1NUAK family, SNF1-like kinase, 112Rare Single Gene Mutation, Functional36
OPHN1oligophrenin 1XRare Single Gene Mutation, Syndromic314
OR52M1Olfactory receptor, family 52, subfamily M, member 111Rare Single Gene Mutation32
OTUD7AOTU deubiquitinase 7A15Rare Single Gene Mutation, Functional34
OXTRoxytocin receptor3Rare Single Gene Mutation, Genetic Association, Functional344
P2RX5Purinergic receptor P2X, ligand gated ion channel, 517Rare Single Gene Mutation32
P4HA2Prolyl 4-hydroxylase, alpha polypeptide II5Rare Single Gene Mutation34
PAHPhenylalanine hydroxylase12Rare Single Gene Mutation, Syndromic33
PARD3BPar-3 partitioning defective 3 homolog B (C. elegans)2Rare Single Gene Mutation, Genetic Association37
NUDCD2NudC domain containing 25Rare Single Gene Mutation32
PAK2p21 (RAC1) activated kinase 23Rare Single Gene Mutation34
PAX5Paired box 59Rare Single Gene Mutation35
PER2period circadian clock 22Rare Single Gene Mutation32
PHF2PHD finger protein 29Rare Single Gene Mutation35
PHRF1PHD and ring finger domains 111Rare Single Gene Mutation34
PLCB1phospholipase C, beta 1 (phosphoinositide-specific)20Rare Single Gene Mutation37
PLXNA4Plexin A47Rare Single Gene Mutation, Functional34
PLXNB1plexin B13Rare Single Gene Mutation33
PREX1Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 120Genetic Association31
PRICKLE1Prickle homolog 1 (Drosophila)12Rare Single Gene Mutation, Syndromic, Functional34
PRICKLE2prickle planar cell polarity protein 23Rare Single Gene Mutation, Functional33
PRKCBprotein kinase C beta16Rare Single Gene Mutation, Genetic Association36
PRODHProline dehydrogenase (oxidase) 122Syndromic, Genetic Association3S6
PRKNparkin RBR E3 ubiquitin protein ligase6Rare Single Gene Mutation, Genetic Association315
PTK7Protein tyrosine kinase 7 (inactive)6Rare Single Gene Mutation34
PYHIN1Pyrin and HIN domain family, member 11Rare Single Gene Mutation34
RAB2ARAB2A, member RAS oncogene family8Rare Single Gene Mutation38
RAB43RAB43, member RAS oncogene family3Rare Single Gene Mutation32
RBFOX1RNA binding protein, fox-1 homolog (C. elegans) 116Rare Single Gene Mutation, Genetic Association333
RBM27RNA binding motif protein 275Rare Single Gene Mutation33
PHBprohibitin17Genetic Association31
PON1paraoxonase 17Genetic Association35
ROBO2roundabout guidance receptor 23Rare Single Gene Mutation, Genetic Association, Functional38
SAE1SUMO1 activating enzyme subunit 119Rare Single Gene Mutation33
SBF1SET binding factor 122Rare Single Gene Mutation38
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, Functional316
SHANK1SH3 and multiple ankyrin repeat domains 119Rare Single Gene Mutation, Genetic Association36
SHOXshort stature homeoboxX,YRare Single Gene Mutation32
SLC12A5Solute carrier family 12 (potassium/chloride transporter), member 520Rare Single Gene Mutation35
SLC35B1solute carrier family 35 member B117Genetic Association31
SLC38A10solute carrier family 38, member 1017Rare Single Gene Mutation31
SLC6A3Solute carrier family 6 (neurotransmitter transporter), member 35Rare Single Gene Mutation, Genetic Association, Functional315
SLC7A3Solute carrier family 7 (cationic amino acid transporter, y+ system), member 3XRare Single Gene Mutation32
SLC7A5solute carrier family 7 member 516Functional32
SMAD4SMAD family member 418Rare Single Gene Mutation34
SMARCA4SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 419Rare Single Gene Mutation, Syndromic36
SPARCL1SPARC like 14Rare Single Gene Mutation, Functional33
STXBP5Syntaxin binding protein 5 (tomosyn)6Rare Single Gene Mutation36
TAF6TATA-box binding protein associated factor 67Rare Single Gene Mutation32
TBC1D31TBC1 domain family, member 318Rare Single Gene Mutation33
SLITRK5SLIT and NTRK like family member 513Rare Single Gene Mutation, Functional39
SNX5sorting nexin 520Rare Single Gene Mutation33
SPENspenfamily transcriptional repressor1Rare Single Gene Mutation36
ST8SIA2ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 215Rare Single Gene Mutation, Genetic Association38
TCF7L2Transcription factor 7-like 2 (T-cell specific, HMG-box)10Rare Single Gene Mutation33
TERF2Telomeric repeat binding factor 216Rare Single Gene Mutation33
TET2Tet methylcytosine dioxygenase 24Rare Single Gene Mutation34
TMLHEtrimethyllysine hydroxylase, epsilonXRare Single Gene Mutation, Genetic Association35
TRAPPC9trafficking protein particle complex 98Rare Single Gene Mutation, Syndromic313
TRPC6Transient receptor potential cation channel, subfamily C, member 611Rare Single Gene Mutation32
TRPM1transient receptor potential cation channel subfamily M member 115Rare Single Gene Mutation33
UBE3CUbiquitin protein ligase E3C7Rare Single Gene Mutation34
UBR5ubiquitin protein ligase E3 component n-recognin 58Rare Single Gene Mutation36
UNC79unc-79 homolog, NALCN channel complex subunit14Rare Single Gene Mutation33
USP45Ubiquitin specific peptidase 456Rare Single Gene Mutation32
VIL1Villin 12Rare Single Gene Mutation31
WWOXWW domain containing oxidoreductase16Rare Single Gene Mutation, Syndromic38
ZC3H4zinc finger CCCH-type containing 419Rare Single Gene Mutation33
ZMYND11Zinc finger, MYND-type containing 1110Rare Single Gene Mutation, Syndromic310
WDFY4WDFY family member 410Rare Single Gene Mutation35
ZNF804AZinc finger protein 804A2Rare Single Gene Mutation, Genetic Association313
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