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Gene Scoring  /  Category 5   175 genes

Database updated on June 20, 2019

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Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ADARB1Adenosine deaminase, RNA-specific, B121Rare Single Gene Mutation, Functional52
APCadenomatosis polyposis coli5Rare Single Gene Mutation, Genetic Association, Functional59
ARHGAP24Rho GTPase activating protein 244Rare Single Gene Mutation51
ARHGAP33Rho GTPase activating protein 3319Rare Single Gene Mutation, Functional52
ADAMTS18ADAM metallopeptidase with thrombospondin type 1 motif 1816Rare Single Gene Mutation, Syndromic54
ALOX5AParachidonate 5-lipoxygenase-activating protein3Functional54
AMBRA1autophagy and beclin 1 regulator 111Functional53
APPAmyloid beta (A4) precursor protein21Functional53
ASS1argininosuccinate synthetase9Functional53
ATG7Autophagy related 73Functional53
ATP8A1ATPase phospholipid transporting 8A14Rare Single Gene Mutation, Functional52
ATRNL1Attractin-like 110Rare Single Gene Mutation52
ATXN7Ataxin 73Rare Single Gene Mutation51
AVPArginine vasopressin20Genetic Association, Functional54
BAIAP2BAI1-associated protein 217Rare Single Gene Mutation, Genetic Association510
BDNFBrain-derived neurotrophic factor11Rare Single Gene Mutation, Functional511
BRINP1BMP/retinoic acid inducible neural specific 19Functional52
CAMSAP2calmodulin regulated spectrin-associated protein family, member 21Rare Single Gene Mutation51
CAMTA1calmodulin binding transcription activator 11Rare Single Gene Mutation58
CD44CD44 molecule (Indian blood group)11Rare Single Gene Mutation, Functional54
CDKN1Bcyclin dependent kinase inhibitor 1B1251
CHD5chromodomain helicase DNA binding protein 51Rare Single Gene Mutation, Functional54
CBLN1cerebellin 1 precursor16Genetic Association, Functional56
CLSTN2calsyntenin 23Rare Single Gene Mutation, Functional54
CLSTN3Calsyntenin 312Rare Single Gene Mutation, Functional53
CNR2Cannabinoid receptor 2 (macrophage)1Rare Single Gene Mutation, Genetic Association, Functional54
CRHR2corticotropin releasing hormone receptor 27Functional53
CXCR3chemokine (C-X-C motif) receptor 3XRare Single Gene Mutation58
DAB1disabled homolog 1 (Drosophila)1Rare Single Gene Mutation, Functional57
DAPK1death-associated protein kinase 19Rare Single Gene Mutation, Genetic Association, Functional55
DCTN5dynactin 516Rare Single Gene Mutation53
DCUN1D1DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)3Functional53
DDX11DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1112Functional53
DIAPH3Diaphanous-related formin 313Rare Single Gene Mutation, Genetic Association511
DNM1LDynamin 1-like12Rare Single Gene Mutation, Functional53
DOCK10Dedicator of cytokinesis 102Rare Single Gene Mutation51
DGKKdiacylglycerol kinase kappaXFunctional51
DGKZdiacylglycerol kinase zeta11Rare Single Gene Mutation52
DLX1distal-less homeobox 12Genetic Association58
DNAJC19DnaJ heat shock protein family (Hsp40) member C193Functional51
DVL1Dishevelled segment polarity protein 11Functional53
EGR2early growth response 2 (Krox-20 homolog, Drosophila)10Functional54
EIF4EBP2Eukaryotic translation initiation factor 4E binding protein 210Functional51
EML1echinoderm microtubule associated protein like 114Rare Single Gene Mutation52
EPHA6EPH receptor A63Rare Single Gene Mutation56
EPHB6EPH receptor B67Rare Single Gene Mutation55
EPS8epidermal growth factor receptor pathway substrate 812Functional51
ERBB4v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian)2Rare Single Gene Mutation515
ESR1estrogen receptor 16Syndromic, Genetic Association510
F13A1coagulation factor XIII, A1 polypeptide6Rare Single Gene Mutation, Functional56
FABP3Fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)1Functional52
FAM19A2family with sequence similarity 19 member A2, C-C motif chemokine like12Functional51
FAM19A3family with sequence similarity 19 member A3, C-C motif chemokine like1Functional52
FGD1FYVE, RhoGEF and PH domain containing 1XRare Single Gene Mutation, Syndromic53
FGFBP3fibroblast growth factor binding protein 310Rare Single Gene Mutation51
FLT1fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular perme ability factor receptor)13Rare Single Gene Mutation, Functional54
DLGAP4DLG associated protein 420Functional52
FGFR2fibroblast growth factor receptor 210Functional51
GABRA1Gamma-aminobutyric acid (GABA) A receptor, alpha 15Rare Single Gene Mutation, Functional57
GABRA5gamma-aminobutyric acid type A receptor alpha5 subunit15Rare Single Gene Mutation, Genetic Association, Functional59
GABRB1gamma-aminobutyric acid (GABA) A receptor, beta 14Rare Single Gene Mutation, Genetic Association56
GABRQGamma-aminobutyric acid (GABA) A receptor, thetaXRare Single Gene Mutation51
GAD1Glutamate decarboxylase 1 (brain, 67kDa)2Rare Single Gene Mutation, Functional55
GADD45BGrowth arrest and DNA-damage-inducible, beta19Rare Single Gene Mutation, Functional54
GANGigaxonin16Rare Single Gene Mutation51
GPR139G protein-coupled receptor 13916Rare Single Gene Mutation55
FOLH1folate hydrolase 111Functional52
GAP43Growth associated protein 433Functional51
GRPRGastrin-releasing peptide receptorXRare Single Gene Mutation, Genetic Association58
GSK3BGlycogen synthase kinase 3 beta3Rare Single Gene Mutation, Functional54
GRM4Glutamate receptor, metabotropic 46Functional51
H2AFZH2A histone family member Z4Genetic Association, Functional53
HDAC3histone deacetylase 35Rare Single Gene Mutation, Functional56
HDChistidine decarboxylase15Rare Single Gene Mutation, Functional56
HOXB1homeobox B117Rare Single Gene Mutation, Genetic Association58
HTR2A5-hydroxytryptamine (serotonin) receptor 2A13Rare Single Gene Mutation, Genetic Association59
HDAC6histone deacetylase 6XRare Single Gene Mutation56
IFNGinterferon gamma12Functional513
IFNGR1interferon gamma receptor 16Functional51
IL17AInterleukin 17A6Functional51
IL17RAinterleukin 17 receptor A22Rare Single Gene Mutation, Functional53
IL6interleukin 67Functional56
ITGB7integrin, beta 712Rare Single Gene Mutation, Functional54
JAKMIP1Janus kinase and microtubule interacting protein 14Rare Single Gene Mutation, Functional58
KCNJ2Potassium inwardly-rectifying channel, subfamily J, member 217Rare Single Gene Mutation, Genetic Association53
KCNT1potassium sodium-activated channel subfamily T member 19Rare Single Gene Mutation, Syndromic511
KIF21Bkinesin family member 21B1Rare Single Gene Mutation, Functional54
KLC2Kinesin light chain 211Rare Single Gene Mutation52
ITGA4integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)2Genetic Association55
KHDRBS3KH RNA binding domain containing, signal transduction associated 38Functional52
KITKIT proto-oncogene receptor tyrosine kinase4Syndromic51
LAMC3laminin, gamma 39Rare Single Gene Mutation59
LATlinker for activation of T-cells16Functional52
MAGED1MAGE family member D1XFunctional51
MALmal, T-cell differentiation protein2Functional52
MAP2microtubule-associated protein 22Rare Single Gene Mutation, Functional55
MAPK1Mitogen-activated protein kinase 122Rare Single Gene Mutation, Functional52
MAPK8IP2Mitogen-activated protein kinase 8 interacting protein 222Functional51
KMOkynurenine 3-monooxygenase1Functional51
LRPPRCleucine rich pentatricopeptide repeat containing2Rare Single Gene Mutation, Functional53
MC4RMelanocortin 4 receptor18Functional54
MCCMCC, WNT signaling pathway regulator5Rare Single Gene Mutation, Functional55
MOCOSMolybdenum cofactor sulfurase18Rare Single Gene Mutation, Functional52
MTR5-methyltetrahydrofolate-homocysteine methyltransferase1Rare Single Gene Mutation, Functional55
MYO1Amyosin IA12Rare Single Gene Mutation57
NCKAP5LNCK-associated protein 5-like12Rare Single Gene Mutation52
NEFLNeurofilament, light polypeptide8Rare Single Gene Mutation, Genetic Association52
NOS1APnitric oxide synthase 1 (neuronal) adaptor protein1Rare Single Gene Mutation56
NOS2nitric oxide synthase 217Rare Single Gene Mutation, Genetic Association57
MTX2Metaxin 22Functional51
MYOZ1myozenin 110Rare Single Gene Mutation51
NR1H2nuclear receptor subfamily 1 group H member 219Functional51
NRG1Neuregulin 18Functional54
OPRM1opioid receptor, mu 16Functional54
P2RX4Purinergic receptor P2X, ligand-gated ion channel, 412Functional51
PAFAH1B1Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)17Functional52
OGTO-linked N-acetylglucosamine (GlcNAc) transferaseXRare Single Gene Mutation, Functional54
PCDHGA11protocadherin gamma subfamily A, 115Rare Single Gene Mutation51
PDE4Bphosphodiesterase 4B, cAMP-specific1Rare Single Gene Mutation, Genetic Association, Functional55
PDZD4PDZ domain containing 4XRare Single Gene Mutation54
PECRperoxisomal trans-2-enoyl-CoA reductase2Rare Single Gene Mutation52
PGLYRP2peptidoglycan recognition protein 219Rare Single Gene Mutation, Functional53
PINX1PIN2/TERF1 interacting, telomerase inhibitor 18Rare Single Gene Mutation55
PLCD1phospholipase C, delta 13Rare Single Gene Mutation59
POU3F2POU class 3 homeobox 26Rare Single Gene Mutation, Functional53
PPP1R3Fprotein phosphatase 1, regulatory (inhibitor) subunit 3FXRare Single Gene Mutation53
PSMD10proteasome (prosome, macropain) 26S subunit, non-ATPase, 10XRare Single Gene Mutation56
PTGER3prostaglandin E receptor 31Rare Single Gene Mutation51
RAC1Rac family small GTPase 17Syndromic, Functional55
PDE4Aphosphodiesterase 4A19Rare Single Gene Mutation, Functional52
RB1CC1RB1-inducible coiled-coil 18Rare Single Gene Mutation55
RBM8ARNA binding motif protein 8A1Rare Single Gene Mutation, Functional55
RBMS3RNA binding motif, single stranded interacting protein 33Rare Single Gene Mutation53
RFWD2ring finger and WD repeat domain 21Rare Single Gene Mutation, Genetic Association59
PLPPR4phospholipid phosphatase related 41Functional53
ROBO1roundabout, axon guidance receptor, homolog 1 (Drosophila)3Rare Single Gene Mutation, Functional511
RASD1ras related dexamethasone induced 117Functional51
RPP25ribonuclease P and MRP subunit p2515Functional51
SH3KBP1SH3-domain kinase binding protein 1XRare Single Gene Mutation54
SLC16A7Solute carrier family 16, member 7 (monocarboxylic acid transporter 2)12Rare Single Gene Mutation51
SLC25A14Solute carrier family 25 (mitochondrial carrier, brain), member 14XFunctional51
SLC25A24Solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 241Rare Single Gene Mutation, Functional52
SLC30A3solute carrier family 30 member 32Functional52
SLC30A5solute carrier family 305Rare Single Gene Mutation53
SLC33A1solute carrier family 33 member 13Functional54
SLC35A3solute carrier family 35 member A31Rare Single Gene Mutation52
SNRPNsmall nuclear ribonucleoprotein polypeptide N15Rare Single Gene Mutation55
SRRM4Serine/arginine repetitive matrix 412Rare Single Gene Mutation, Functional55
STAT1signal transducer and activator of transcription 12Rare Single Gene Mutation, Functional52
SYN3Synapsin III22Rare Single Gene Mutation, Functional52
SEMA3Fsemaphorin 3F3Functional51
SH3RF2SH3 domain containing ring finger 25Functional51
SLC22A3solute carrier family 22 member 36Functional53
TBC1D7TBC1 domain family member 76Rare Single Gene Mutation, Functional54
TERTtelomerase reverse transcriptase5Rare Single Gene Mutation, Functional52
TNIP2TNFAIP3 interacting protein 24Rare Single Gene Mutation51
TOMM20Translocase of outer mitochondrial membrane 20 homolog (yeast)1Functional51
TOP1Topoisomerase (DNA) I20Rare Single Gene Mutation, Functional57
TYRtyrosinase11Rare Single Gene Mutation, Functional53
UBA6Ubiquitin-like modifier activating enzyme 64Functional52
UBE3Bubiquitin protein ligase E3B12Rare Single Gene Mutation, Syndromic, Functional56
UBR7ubiquitin protein ligase E3 component n-recognin 7 (putative)14Rare Single Gene Mutation51
UCN3urocortin 310Functional51
UPB1beta-ureidopropionase 122Rare Single Gene Mutation51
UPF2UPF2, regulator of nonsense mediated mRNA decay10Rare Single Gene Mutation56
THtyrosine hydroxylase11Rare Single Gene Mutation, Genetic Association, Functional518
VLDLRVery low density lipoprotein receptor9Functional53
VRK3vaccinia related kinase 319Functional51
WDR93WD repeat domain 9315Rare Single Gene Mutation51
WNT2wingless-type MMTV integration site family member 27Rare Single Gene Mutation, Genetic Association510
ZNF8Zinc finger protein 819Rare Single Gene Mutation51
VIPvasoactive intestinal peptide6Rare Single Gene Mutation, Functional56
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