Gene Scoring  /  Category 3   471 genes

Database updated on April 28, 2020

Chromosomes:  All
  • Select all
  • Unselect all

Category:
Reports:
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
Submit New Gene

Report an Error

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.
Close