Human Gene Module 883 total genes

Database updated on June 22, 2017

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Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ADNPActivity-dependent neuroprotector homeobox20Rare Single Gene Mutation, Syndromic1S18
AHI1Abelson helper integration site 16Rare Single Gene Mutation, Syndromic, Genetic AssociationSS18
ALDH5A1aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase )6Rare Single Gene Mutation, SyndromicSS9
ANKRD11ankyrin repeat domain 1116Rare Single Gene Mutation, Syndromic2S27
ARID1BAT rich interactive domain 1B (SWI1-like)6Rare Single Gene Mutation, Syndromic1S23
ARXaristaless related homeoboxXRare Single Gene Mutation, SyndromicSS12
ASTN2astrotactin 29Rare Single Gene Mutation, Genetic Association310
ABAT4-aminobutyrate aminotransferase16Genetic Association44
ADCY5Adenylate cyclase 53Rare Single Gene Mutation44
ADKadenosine kinase10Rare Single Gene Mutation41
ADORA2Aadenosine A2a receptor22Syndromic47
ADRB2adrenergic, beta-2-, receptor, surface5Genetic Association410
AFF2AF4/FMR2 family, member 2XRare Single Gene Mutation, Syndromic413
AFF4AF4/FMR2 family, member 45Rare Single Gene Mutation, Syndromic67
AGAP1ArfGAP with GTPase domain, ankyrin repeat and PH domain 12Rare Single Gene Mutation48
AGBL4ATP/GTP binding protein-like 41Rare Single Gene Mutation43
AGMOalkylglycerol monooxygenase7Rare Single Gene Mutation, Genetic Association45
AGTR2angiotensin II receptor, type 2XRare Single Gene Mutation43
ALOX5AParachidonate 5-lipoxygenase-activating protein3Functional54
APBA2amyloid beta (A4) precursor protein-binding, family A, member 215Rare Single Gene Mutation46
APCadenomatosis polyposis coli5Rare Single Gene Mutation, Genetic Association, Functional59
ARandrogen receptorXGenetic Association46
ARHGAP15Rho GTPase activating protein 152Rare Single Gene Mutation67
ARHGAP24Rho GTPase activating protein 244Rare Single Gene Mutation51
ARNT2aryl-hydrocarbon receptor nuclear translocator 215Rare Single Gene Mutation, Syndromic, Genetic Association411
ASMTacetylserotonin O-methyltransferaseXRare Single Gene Mutation, Genetic Association49
ASS1argininosuccinate synthetase9Functional53
ATP10AProbable phospholipid-transporting ATPase VA15Rare Single Gene Mutation, Genetic Association, Functional37
ATP2B2ATPase, Ca++ transporting, plasma membrane 23Rare Single Gene Mutation, Genetic Association36
ATRNL1Attractin-like 110Rare Single Gene Mutation51
ATRXalpha thalassemia/mental retardation syndrome X-linkedXRare Single Gene Mutation, Syndromic413
CADPS2Ca2+-dependent activator protein for secretion 27Rare Single Gene Mutation, Functional412
CDKL5cyclin-dependent kinase-like 5XRare Single Gene Mutation, SyndromicSS28
ATXN7Ataxin 73Rare Single Gene Mutation51
BAIAP2BAI1-associated protein 217Rare Single Gene Mutation, Genetic Association510
BCKDKBranched chain ketoacid dehydrogenase kinase16Rare Single Gene Mutation23
BCL2B-cell CLL/lymphoma 218Functional610
BRCA2breast cancer 2, early onset13Rare Single Gene Mutation43
BTAF1RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae)10Rare Single Gene Mutation64
BZRAP1benzodiazapine receptor (peripheral) associated protein 117Rare Single Gene Mutation45
C3orf58chromosome 3 open reading frame 583Rare Single Gene Mutation43
C4Bcomplement component 4B6Genetic Association, Functional45
CA6carbonic anhydrase VI1Rare Single Gene Mutation46
CACNA1Ccalcium channel, voltage-dependent, L type, alpha 1C subunit12Rare Single Gene Mutation, Syndromic, Genetic AssociationSS37
CACNA1Dcalcium channel, voltage-dependent, L type, alpha 1D3Rare Single Gene Mutation, Functional311
CACNA1Fcalcium channel, voltage-dependent, alpha 1FXRare Single Gene Mutation, Genetic Association47
CACNA1Gcalcium channel, voltage-dependent, T type, alpha 1G subunit17Rare Single Gene Mutation, Genetic Association417
CACNA1Hcalcium channel, voltage-dependent, alpha 1H subunit16Rare Single Gene Mutation220
CACNA1ICalcium channel, voltage-dependent, T type, alpha 1I subunit22Rare Single Gene Mutation, Genetic Association45
CADM1cell adhesion molecule 111Rare Single Gene Mutation48
CAMTA1calmodulin binding transcription activator 11Rare Single Gene Mutation56
CASC4cancer susceptibility candidate 415Rare Single Gene Mutation44
CCDC64coiled-coil domain containing 6412Genetic Association42
CD44CD44 molecule (Indian blood group)11Functional53
CDH10cadherin 10, type 2 (T2-cadherin)5Rare Single Gene Mutation, Genetic Association49
CDH22cadherin-like 2220Genetic Association44
CDH8cadherin 8, type 216Rare Single Gene Mutation49
CDH9cadherin 9, type 2 (T1-cadherin)5Rare Single Gene Mutation, Genetic Association46
CHD7chromodomain helicase DNA binding protein 78Rare Single Gene Mutation, SyndromicSS17
CHD8chromodomain helicase DNA binding protein 814Rare Single Gene Mutation1S22
CNTN6Contactin 63Rare Single Gene Mutation, Genetic Association39
CNTNAP2contactin associated protein-like 27Rare Single Gene Mutation, Syndromic, Genetic Association2S54
CTNNB1Catenin (cadherin-associated protein), beta 1, 88kDa3Rare Single Gene Mutation, Syndromic316
CEP41testis specific, 147Rare Single Gene Mutation33
CHRNA7cholinergic receptor, nicotinic, alpha 715Rare Single Gene Mutation311
CHST5carbohydrate sulfotransferase 516Rare Single Gene Mutation65
CIB2Calcium and integrin binding family member 215Rare Single Gene Mutation31
CLTCL1clathrin, heavy chain-like 122Rare Single Gene Mutation44
CNR1cannabinoid receptor 1 (brain)6Rare Single Gene Mutation, Genetic Association36
CNTN4contactin 43Rare Single Gene Mutation, Syndromic, Genetic Association217
CNTN5Contactin 511Rare Single Gene Mutation, Genetic Association39
CNTNAP5contactin associated protein-like 52Rare Single Gene Mutation, Genetic Association410
CREBBPCREB binding protein16Rare Single Gene Mutation, Syndromic, Genetic Association514
CSNK1Dcasein kinase 1, delta17Rare Single Gene Mutation61
CTNNA3catenin (cadherin-associated protein), alpha 310Rare Single Gene Mutation, Genetic Association413
CUL3Cullin 32Rare Single Gene Mutation112
DYRK1ADual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A21Rare Single Gene Mutation, Syndromic1S28
EHMT1Euchromatic histone-lysine N-methyltransferase 19Rare Single Gene Mutation, Syndromic3S16
CTTNBP2cortactin binding protein 27Rare Single Gene Mutation, Syndromic36
CXCR3chemokine (C-X-C motif) receptor 3XRare Single Gene Mutation58
CYP11B1cytochrome P450, family 11, subfamily B, polypeptide 18Syndromic44
DAB1disabled homolog 1 (Drosophila)1Rare Single Gene Mutation, Functional57
DAPK1death-associated protein kinase 19Rare Single Gene Mutation, Genetic Association, Functional55
DAPP1Dual adaptor of phosphotyrosine and 3-phosphoinositides4Rare Single Gene Mutation31
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
DDX53DEAD (Asp-Glu-Ala-Asp) box polypeptide 53XRare Single Gene Mutation43
DHCR77-dehydrocholesterol reductase11Rare Single Gene Mutation, SyndromicSS12
DIAPH3Diaphanous-related formin 313Rare Single Gene Mutation510
DISC1disrupted in schizophrenia 11Rare Single Gene Mutation, Syndromic, Genetic Association332
DLGAP2discs, large (Drosophila) homolog-associated protein 28Rare Single Gene Mutation412
DLX2distal-less homeobox 22Genetic Association411
DLX6distal-less homeobox 67Rare Single Gene Mutation48
DMDdystrophin (muscular dystrophy, Duchenne and Becker types)XRare Single Gene Mutation, Syndromic, Genetic AssociationSS34
DMPKdystrophia myotonica-protein kinase19Rare Single Gene Mutation, SyndromicSS7
DNAJC19DnaJ (Hsp40) homolog, subfamily C, member 193Functional51
DNERDelta/notch-like EGF repeat containing2Rare Single Gene Mutation, Genetic Association42
DNM1LDynamin 1-like12Functional51
DPP10Dipeptidyl-peptidase 102Rare Single Gene Mutation310
DPP6dipeptidyl-peptidase 67Rare Single Gene Mutation, Genetic Association, Functional423
DPYDdihydropyrimidine dehydrogenase1Rare Single Gene Mutation, Genetic Association47
DRD3dopamine receptor D33Rare Single Gene Mutation, Genetic Association48
EGR2early growth response 2 (Krox-20 homolog, Drosophila)10Functional54
EIF4Eeukaryotic translation initiation factor 4E4Rare Single Gene Mutation, Genetic Association412
EIF4EBP2Eukaryotic translation initiation factor 4E binding protein 210Functional51
EML1echinoderm microtubule associated protein like 114Rare Single Gene Mutation52
EN2engrailed homolog 27Rare Single Gene Mutation, Genetic Association, Functional419
ERBB4v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian)2Rare Single Gene Mutation514
FHITfragile histidine triad gene3Rare Single Gene Mutation, Genetic Association410
FMR1fragile X mental retardation 1XRare Single Gene Mutation, Syndromic, Genetic Association, FunctionalSS39
FOXP1forkhead box P13Rare Single Gene Mutation, Functional224
FOXP2forkhead box P27Rare Single Gene Mutation, Genetic Association334
GABRB3gamma-aminobutyric acid (GABA) A receptor, beta 315Rare Single Gene Mutation, Genetic Association234
EP300E1A binding protein p30022Rare Single Gene Mutation, Syndromic4S13
EP400E1A binding protein p40012Rare Single Gene Mutation35
EPC2Enhancer of polycomb homolog 2 (Drosophila)2Rare Single Gene Mutation44
EPHA6EPH receptor A63Rare Single Gene Mutation56
EPHB6EPH receptor B67Rare Single Gene Mutation55
ERGv-ets erythroblastosis virus E26 oncogene homolog (avian)21Genetic Association41
ESR1estrogen receptor 16Syndromic, Genetic Association59
ESR2estrogen receptor 2 (ER beta)14Rare Single Gene Mutation, Syndromic47
ESRRBestrogen-related receptor beta14Rare Single Gene Mutation, Genetic Association47
EXT1Exostosin 18Rare Single Gene Mutation44
F13A1coagulation factor XIII, A1 polypeptide6Rare Single Gene Mutation, Functional55
FABP5fatty acid binding protein 5 (psoriasis-associated)8Rare Single Gene Mutation, Functional46
FABP7fatty acid binding protein 7, brain6Rare Single Gene Mutation, Genetic Association, Functional67
FBXO33F-box protein 3314Genetic Association43
FBXO40F-box protein 403Rare Single Gene Mutation, Genetic Association44
FEZF2FEZ family zinc finger 23Rare Single Gene Mutation, Genetic Association48
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)13Functional53
FOLH1Folate hydrolase (prostate-specific membrane antigen) 111Functional52
FOXG1Forkhead box G114Rare Single Gene Mutation, Syndromic517
FRKfyn-related kinase6Rare Single Gene Mutation, Genetic Association43
FRMPD4FERM and PDZ domain containing 4XRare Single Gene Mutation, Syndromic53
GRIK2glutamate receptor, ionotropic, kainate 26Rare Single Gene Mutation, Genetic Association316
GRIN2Aglutamate receptor, ionotropic, N-methyl D-aspartate 2A16Rare Single Gene Mutation, Syndromic, Genetic Association426
GRIN2Bglutamate receptor, inotropic, N-methyl D-apartate 2B12Rare Single Gene Mutation, Syndromic, Genetic Association134
GABRQGamma-aminobutyric acid (GABA) A receptor, thetaXRare Single Gene Mutation51
GALNT13UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)2Rare Single Gene Mutation44
GALNT14UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)2Rare Single Gene Mutation, Genetic Association44
GAP43Growth associated protein 433Functional51
GAS2Growth arrest-specific 211Genetic Association41
GLO1glyoxalase I6Genetic Association49
GNB1Lguanine nucleotide binding protein (G protein), beta polypeptide 1-like22Rare Single Gene Mutation, Genetic Association42
GPC6glypican 613Rare Single Gene Mutation, Genetic Association48
GPR139G protein-coupled receptor 13916Rare Single Gene Mutation55
GPR37G protein-coupled receptor 37 (endothelin receptor type B-like)7Rare Single Gene Mutation42
GPX1glutathione peroxidase 13Genetic Association45
GRID2glutamate receptor, ionotropic, delta 24Rare Single Gene Mutation, Syndromic47
GRM8glutamate receptor, metabotropic 87Rare Single Gene Mutation, Genetic Association67
GSTM1glutathione S-transferase M11Genetic Association43
GTF2Igeneral transcription factor IIi7Rare Single Gene Mutation, Genetic Association45
GUCY1A2Guanylate cyclase 1, soluble, alpha 211Genetic Association41
HDAC4histone deacetylase 42Rare Single Gene Mutation, Syndromic, Genetic AssociationSS11
HEPACAMhepatic and glial cell adhesion molecule11Rare Single Gene Mutation, SyndromicSS7
HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 215Rare Single Gene MutationSS6
HLA-Amajor histocompatibility complex, class I, A6Genetic Association47
KATNAL2Katanin p60 subunit A-like 218Rare Single Gene Mutation17
KCNT1Potassium channel, subfamily T, member 19Rare Single Gene Mutation, Syndromic58
MAPK3mitogen-activated protein kinase 316Rare Single Gene Mutation43
HMGN1high mobility group nucleosome binding domain 121Genetic Association31
HNRNPH2heterogeneous nuclear ribonucleoprotein H2 (H')XRare Single Gene Mutation44
HOMER1Homer homolog 1 (Drosophila)5Rare Single Gene Mutation, Functional45
HOXA1homeobox A17Rare Single Gene Mutation, Syndromic, Genetic AssociationSS15
HOXB1homeobox B117Rare Single Gene Mutation, Genetic Association58
HRASv-Ha-ras Harvey rat sarcoma viral oncogene homolog11Rare Single Gene Mutation, Syndromic, Genetic Association410
HS3ST5heparan sulfate (glucosamine) 3-O-sulfotransferase 56Genetic Association45
HSD11B1hydroxysteroid (11-beta) dehydrogenase 11Syndromic48
HTR1B5-hydroxytryptamine (serotonin) receptor 1B6Rare Single Gene Mutation, Genetic Association46
HTR2A5-hydroxytryptamine (serotonin) receptor 2A13Rare Single Gene Mutation, Genetic Association59
ICA1islet cell autoantigen 1, 69kDa7Rare Single Gene Mutation44
IL1R2interleukin 1 receptor, type II2Rare Single Gene Mutation46
IL1RAPL1interleukin 1 receptor accessory protein-like 1XRare Single Gene Mutation419
IL1RAPL2interleukin 1 receptor accessory protein-like 2XRare Single Gene Mutation, Genetic Association42
IMMP2LIMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)7Rare Single Gene Mutation, Genetic Association510
ITGA4integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)2Genetic Association55
ITGB3integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)17Rare Single Gene Mutation, Genetic Association312
JMJD1Cjumonji domain containing 1C10Rare Single Gene Mutation46
KCNJ10Potassium inwardly-rectifying channel, subfamily J, member 101Rare Single Gene Mutation, Syndromic, Genetic Association310
KCNMA1potassium large conductance calcium-activated channel, subfamily M, alpha member 110Rare Single Gene Mutation417
KCTD13Potassium channel tetramerisation domain containing 1316Rare Single Gene Mutation44
KDM5CLysine (K)-specific demethylase 5CXRare Single Gene Mutation, Syndromic318
KHDRBS2KH domain containing, RNA binding, signal transduction associated 26Rare Single Gene Mutation42
KIAA1586KIAA15866Rare Single Gene Mutation33
KLC2Kinesin light chain 211Rare Single Gene Mutation52
KMT5Blysine methyltransferase 5B11Rare Single Gene Mutation16
LAMA1Laminin, alpha 118Rare Single Gene Mutation, Genetic Association44
LAMB1laminin, beta 17Rare Single Gene Mutation, Genetic Association34
LEPLeptin7Rare Single Gene Mutation41
LMX1BLIM homeobox transcription factor 1, beta9Genetic Association41
LRFN5leucine rich repeat and fibronectin type III domain containing 514Rare Single Gene Mutation, Genetic Association46
LRP2Low density lipoprotein receptor-related protein 22Rare Single Gene Mutation, Syndromic, Genetic Association49
LRRC1leucine rich repeat containing 16Genetic Association44
LZTS2leucine zipper, putative tumor suppressor 210Genetic Association44
MACROD2MACRO domain containing 220Rare Single Gene Mutation, Genetic Association316
MAGED1Melanoma antigen family D, 1XFunctional51
MAP2microtubule-associated protein 22Rare Single Gene Mutation, Functional55
MAPK1Mitogen-activated protein kinase 122Rare Single Gene Mutation, Functional52
MBD1methyl-CpG binding domain protein 118Rare Single Gene Mutation47
MBD5Methyl-CpG binding domain protein 52Rare Single Gene Mutation, Syndromic3S25
MECP2Methyl CpG binding protein 2XRare Single Gene Mutation, Syndromic, Functional2S58
MEF2Cmyocyte enhancer factor 2C5Rare Single Gene Mutation, Syndromic, Functional4S24
MTHFRmethylenetetrahydrofolate reductase (NAD(P)H)1Syndromic, Genetic Association414
MAPK8IP2Mitogen-activated protein kinase 8 interacting protein 222Functional51
MARK1MAP/microtubule affinity-regulating kinase 11Rare Single Gene Mutation, Genetic Association410
MBD4methyl-CpG binding domain protein 43Rare Single Gene Mutation46
MCPH1microcephalin 18Rare Single Gene Mutation413
MDGA2MAM domain containing glycosylphosphatidylinositol anchor 214Rare Single Gene Mutation, Genetic Association47
MED12mediator complex subunit 12XRare Single Gene Mutation, Syndromic, Genetic Association618
METmet proto-oncogene (hepatocyte growth factor receptor)7Rare Single Gene Mutation, Genetic Association, Functional233
MKL2MKL/myocardin-like 216Rare Single Gene Mutation, Genetic Association48
MSR1macrophage scavenger receptor 18Rare Single Gene Mutation42
MTF1metal-regulatory transcription factor 11Syndromic, Genetic Association44
MYO16myosin XVI13Rare Single Gene Mutation, Genetic Association46
MYO1Amyosin IA12Rare Single Gene Mutation57
NBEAneurobeachin13Rare Single Gene Mutation47
NCKAP5NCK-associated protein 52Rare Single Gene Mutation41
NCKAP5LNCK-associated protein 5-like12Rare Single Gene Mutation52
NDNL2necdin-like 215Functional43
NDUFA5NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa7Genetic Association43
NEFLNeurofilament, light polypeptide8Genetic Association51
NF1neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)17Rare Single Gene Mutation, Syndromic, Genetic AssociationSS21
NFIAnuclear factor I/A1Rare Single Gene Mutation48
NIPBLNipped-B homolog (Drosophila)5Rare Single Gene Mutation, SyndromicSS6
NLGN3neuroligin 3XRare Single Gene Mutation231
NRXN1neurexin 12Rare Single Gene Mutation, Syndromic, Genetic Association266
OXTRoxytocin receptor3Rare Single Gene Mutation, Genetic Association, Functional338
NLGN1neuroligin 13Rare Single Gene Mutation, Genetic Association415
NLGN4Xneuroligin 4, X-linkedXRare Single Gene Mutation, Genetic Association327
NLGN4Yneuroligin 4, Y-linkedYGenetic Association43
NOS1APnitric oxide synthase 1 (neuronal) adaptor protein1Rare Single Gene Mutation56
NOS2Anitric oxide synthase 2A (inducible, hepatocytes)17Genetic Association56
NRCAMneuronal cell adhesion molecule7Rare Single Gene Mutation, Genetic Association45
NRP2neuropilin 22Rare Single Gene Mutation, Genetic Association47
NRXN2neurexin 211Rare Single Gene Mutation45
NRXN3neurexin 314Rare Single Gene Mutation, Genetic Association314
NSD1nuclear receptor binding SET domain protein 15Rare Single Gene Mutation, SyndromicSS9
NTNG1netrin G11Rare Single Gene Mutation, Syndromic, Genetic Association4S8
NTRK1neurotrophic tyrosine kinase, receptor, type 11Rare Single Gene Mutation, Syndromic48
NTRK3neurotrophic tyrosine kinase, receptor, type 315Rare Single Gene Mutation, Syndromic, Genetic Association413
NXPH1neurexophilin 17Rare Single Gene Mutation44
ODF3L2outer dense fiber of sperm tails 3-like 219Rare Single Gene Mutation41
OPHN1oligophrenin 1XRare Single Gene Mutation39
OPRM1opioid receptor, mu 16Functional54
OR1C1olfactory receptor, family 1, subfamily C, member 11Rare Single Gene Mutation42
OTX1Orthodenticle homeobox 12Genetic Association43
PARD3BPar-3 partitioning defective 3 homolog B (C. elegans)2Rare Single Gene Mutation, Genetic Association36
PCDH19protocadherin 19XRare Single Gene Mutation, SyndromicSS17
POGZPogo transposable element with ZNF domain1Rare Single Gene Mutation, Syndromic1S20
PTENphosphatase and tensin homolog (mutated in multiple advanced cancers 1)10Rare Single Gene Mutation, Syndromic1S41
PARK2Parkinson disease (autosomal recessive, juvenile) 2, parkin6Rare Single Gene Mutation, Genetic Association314
PCDH10protocadherin 104Rare Single Gene Mutation47
PCDH15Protocadherin-related 1510Rare Single Gene Mutation, Genetic Association44
PCDH9protocadherin 913Rare Single Gene Mutation46
PCDHGA11protocadherin gamma subfamily A, 115Rare Single Gene Mutation51
PDE4Bphosphodiesterase 4B, cAMP-specific1Rare Single Gene Mutation, Functional54
PDZD4PDZ domain containing 4XRare Single Gene Mutation53
PECRperoxisomal trans-2-enoyl-CoA reductase2Rare Single Gene Mutation52
PER1period homolog 1 (Drosophila)17Rare Single Gene Mutation, Genetic Association45
PIK3CGphosphoinositide-3-kinase, catalytic, gamma polypeptide7Genetic Association44
PINX1PIN2/TERF1 interacting, telomerase inhibitor 18Rare Single Gene Mutation55
PITX1paired-like homeodomain 15Rare Single Gene Mutation, Genetic Association46
PLCB1phospholipase C, beta 1 (phosphoinositide-specific)20Rare Single Gene Mutation37
PLCD1phospholipase C, delta 13Rare Single Gene Mutation59
PLNphospholamban6Rare Single Gene Mutation44
PLXNA4Plexin A47Rare Single Gene Mutation, Functional33
PON1paraoxonase 17Genetic Association35
PPP1R1BProtein phosphatase 1, regulatory (inhibitor) subunit 1B17Genetic Association41
PPP1R3Fprotein phosphatase 1, regulatory (inhibitor) subunit 3FXRare Single Gene Mutation53
PRKCBprotein kinase C, beta16Genetic Association34
PRKD1Protein kinase D114Rare Single Gene Mutation, SyndromicSS4
PSD3pleckstrin and Sec7 domain containing 38Rare Single Gene Mutation44
PSMD10proteasome (prosome, macropain) 26S subunit, non-ATPase, 10XRare Single Gene Mutation56
PTCHD1patched domain containing 1XRare Single Gene Mutation, Genetic Association211
PTGS2prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxyge nase)1Genetic Association45
PTPN11protein tyrosine phosphatase, non-receptor type 1112Rare Single Gene Mutation, Syndromic4S9
RELNReelin7Rare Single Gene Mutation, Syndromic, Genetic Association, Functional140
SATB2SATB homeobox 22Rare Single Gene Mutation, Syndromic4S15
SCN1Asodium channel, voltage-gated, type I, alpha subunit2Rare Single Gene Mutation, Syndromic, Genetic AssociationSS38
SCN2Asodium channel, voltage-gated, type II, alpha subunit2Rare Single Gene Mutation, Syndromic140
RAB39BRAB39B, member RAS oncogene familyXRare Single Gene Mutation47
RAI1retinoic acid induced 117Rare Single Gene Mutation, SyndromicSS15
RAPGEF4Rap guanine nucleotide exchange factor (GEF) 42Rare Single Gene Mutation414
RB1CC1RB1-inducible coiled-coil 18Rare Single Gene Mutation53
RBFOX1RNA binding protein, fox-1 homolog (C. elegans) 116Rare Single Gene Mutation, Genetic Association331
RBMS3RNA binding motif, single stranded interacting protein 33Rare Single Gene Mutation52
REEP3receptor accessory protein 310Rare Single Gene Mutation43
REREArginine-glutamic acid dipeptide (RE) repeats1Rare Single Gene Mutation, Syndromic4S4
RFWD2ring finger and WD repeat domain 21Rare Single Gene Mutation, Genetic Association59
RGS7regulator of G-protein signaling 71Rare Single Gene Mutation46
RHOXF1Rhox homeobox family, member 1XGenetic Association43
RIMS3regulating synaptic membrane exocytosis 31Rare Single Gene Mutation44
ROBO1roundabout, axon guidance receptor, homolog 1 (Drosophila)3Rare Single Gene Mutation, Functional59
ROBO2Roundabout, axon guidance receptor, homolog 2 (Drosophila)3Rare Single Gene Mutation, Genetic Association, Functional38
RORARAR-related orphan receptor A15Rare Single Gene Mutation, Functional515
RPL10ribosomal protein L10XRare Single Gene Mutation, Syndromic411
RPS6KA2ribosomal protein S6 kinase, 90kDa, polypeptide 26Rare Single Gene Mutation43
SBF1SET binding factor 122Rare Single Gene Mutation36
SCFD2sec1 family domain containing 24Rare Single Gene Mutation42
SLC4A10solute carrier family 4, sodium bicarbonate transporter-like, member 102Rare Single Gene Mutation, Genetic Association46
SLC6A4solute carrier family 6 (neurotransmitter transporter, serotonin), member 417Rare Single Gene Mutation, Genetic Association425
SLC6A8solute carrier family 6 (neurotransmitter transporter, creatine), member 8XRare Single Gene Mutation, Syndromic49
SDC2syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated, fibroglycan )8Rare Single Gene Mutation43
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, Functional315
SETD2SET domain containing 23Rare Single Gene Mutation39
SETDB1SET domain, bifurcated 11Rare Single Gene Mutation42
SETDB2SET domain, bifurcated 213Rare Single Gene Mutation, Syndromic42
SEZ6L2SEZ6L2 seizure related 6 homolog (mouse)-like 216Rare Single Gene Mutation, Genetic Association45
SGSM3Small G protein signaling modulator 322Rare Single Gene Mutation43
SH3KBP1SH3-domain kinase binding protein 1XRare Single Gene Mutation54
SHANK1SH3 and multiple ankyrin repeat domains 119Rare Single Gene Mutation35
SHANK2SH3 and multiple ankyrin repeat domains 211Rare Single Gene Mutation, Syndromic, Functional221
SHANK3SH3 and multiple ankyrin repeat domains 322Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S56
SLC16A3solute carrier family 16, member 3 (monocarboxylic acid transporter 4)17Rare Single Gene Mutation62
SLC16A7Solute carrier family 16, member 7 (monocarboxylic acid transporter 2)12Rare Single Gene Mutation51
SLC1A1solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 19Rare Single Gene Mutation, Genetic Association411
SLC22A15Solute carrier family 22, member 151Genetic Association41
SLC25A12solute carrier family 25 (mitochondrial carrier, Aralar), member 122Rare Single Gene Mutation, Genetic Association, Functional419
SLC25A14Solute carrier family 25 (mitochondrial carrier, brain), member 14XFunctional51
SLC25A24Solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 241Functional51
SLC30A5solute carrier family 305Rare Single Gene Mutation53
SLC38A10solute carrier family 38, member 1017Rare Single Gene Mutation31
SLC9A6solute carrier family 9 (sodium/hydrogen exchanger), member 6XRare Single Gene Mutation, Syndromic, FunctionalSS11
SLC9A9solute carrier family 9 (sodium/hydrogen exchanger), member 93Rare Single Gene Mutation, Genetic Association, Functional410
SND1staphylococcal nuclease and tudor domain containing 17Rare Single Gene Mutation, Genetic Association48
SOX5SRY (sex determining region Y)-box 512Rare Single Gene MutationSS8
STXBP1Syntaxin binding protein 19Rare Single Gene Mutation, Syndromic3S24
SYNGAP1synaptic Ras GTPase activating protein 16Rare Single Gene Mutation, Syndromic1S34
TBL1XR1Transducin (beta)-like 1 X-linked receptor 13Rare Single Gene Mutation310
TBR1T-box, brain, 12Rare Single Gene Mutation, Genetic Association116
SNRPNsmall nuclear ribonucleoprotein polypeptide N15Rare Single Gene Mutation55
SNTG2Syntrophin, gamma 22Rare Single Gene Mutation45
SPASTSpastin2Rare Single Gene Mutation27
ST7suppression of tumorigenicity 77Rare Single Gene Mutation44
STK39serine threonine kinase 39 (STE20/SPS1 homolog, yeast)2Genetic Association45
SUCLG2succinate-CoA ligase, GDP-forming, beta subunit3Rare Single Gene Mutation64
SYN1Synapsin 1XRare Single Gene Mutation, Functional416
SYNE1spectrin repeat containing, nuclear envelope 16Rare Single Gene Mutation, Genetic Association4S14
TAF1LTAF1 RNA polymerase II9Rare Single Gene Mutation63
TBL1Xtransducin (beta)-like 1X-linkedXGenetic Association41
TBX1T-box 122Syndromic41
TDO2tryptophan 2,3-dioxygenase4Genetic Association44
TGM3transglutaminase 320Rare Single Gene Mutation65
TLK2tousled-like kinase 217Rare Single Gene Mutation57
TMLHEtrimethyllysine hydroxylase, epsilonXRare Single Gene Mutation, Genetic Association35
TNIP2TNFAIP3 interacting protein 24Rare Single Gene Mutation51
TOMM20Translocase of outer mitochondrial membrane 20 homolog (yeast)1Functional51
TRIP12Thyroid hormone receptor interactor 122Rare Single Gene Mutation, Syndromic1S12
TSC1tuberous sclerosis 19Rare Single Gene Mutation, SyndromicSS16
TSC2tuberous sclerosis 216Rare Single Gene Mutation, Syndromic, Genetic AssociationSS23
UBE3Aubiquitin protein ligase E3A15Rare Single Gene Mutation, Syndromic, Genetic Association3S23
UBE3Bubiquitin protein ligase E3B12Rare Single Gene Mutation, Syndromic55
WNT2wingless-type MMTV integration site family member 27Rare Single Gene Mutation, Genetic Association510
TPH2tryptophan hydroxylase 212Rare Single Gene Mutation, Genetic Association612
TSNtranslin2Functional53
TSPAN7tetraspanin 7XRare Single Gene Mutation47
TTNtitin2Rare Single Gene Mutation, Syndromic413
UBE2Hubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)7Genetic Association41
UBE3CUbiquitin protein ligase E3C7Rare Single Gene Mutation34
UBL7ubiquitin-like 7 (bone marrow stromal cell-derived)15Rare Single Gene Mutation61
UBR5Ubiquitin protein ligase E3 component n-recognin 58Rare Single Gene Mutation35
UBR7ubiquitin protein ligase E3 component n-recognin 7 (putative)14Rare Single Gene Mutation51
UPF3BUPF3 regulator of nonsense transcripts homolog B (yeast)XRare Single Gene Mutation, SyndromicSS10
VASH1vasohibin 114Genetic Association44
VPS13Bvacuolar protein sorting 13 homolog B (yeast)8Rare Single Gene Mutation, SyndromicSS16
WNK3WNK lysine deficient protein kinase 3XRare Single Gene Mutation46
XIRP1xin actin-binding repeat containing 13Rare Single Gene Mutation66
XPO1Exportin 1 (CRM1 homolog, yeast)2Genetic Association43
YWHAETyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide17Rare Single Gene Mutation45
ZNF8Zinc finger protein 819Rare Single Gene Mutation51
ZSWIM5zinc finger, SWIM-type containing 51Rare Single Gene Mutation61
DUSP22dual specificity phosphatase 226Rare Single Gene Mutation1
NIPA1non imprinted in Prader-Willi/Angelman syndrome 115Rare Single Gene Mutation3
XPCxeroderma pigmentosum, complementation group C3Rare Single Gene Mutation, Syndromic8
PRSS38Protease, serine, 381Rare Single Gene Mutation, Genetic Association3
CELF4CUGBP, Elav-like family member 418Rare Single Gene Mutation, Functional6
CD99L2CD99 molecule-like 2XGenetic Association1
SERPINE1Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 17Genetic Association2
GRM5Glutamate receptor, metabotropic 511Rare Single Gene Mutation, Genetic Association, Functional5
PDE4Aphosphodiesterase 4A, cAMP-specific19Rare Single Gene Mutation, Functional2
DLG4Discs, large homolog 4 (Drosophila)17Rare Single Gene Mutation, Syndromic, Functional8
CAMSAP2calmodulin regulated spectrin-associated protein family, member 21Rare Single Gene Mutation1
CBScystathionine beta-synthase21Syndromic, Functional4
GRID1Glutamate receptor, ionotropic, delta 110Rare Single Gene Mutation, Genetic Association6
TAF1CTATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa16Genetic Association1
RAB11FIP5RAB11 family interacting protein 52Rare Single Gene Mutation4
TUBGCP5tubulin, gamma complex associated protein 515Rare Single Gene Mutation3
ZNF18zinc finger protein 1817Rare Single Gene Mutation1
BIN1Bridging integrator 12Rare Single Gene Mutation, Genetic Association3
PDE1Cphosphodiesterase 1C, calmodulin-dependent 70kDa7Rare Single Gene Mutation1
LRRC7Leucine rich repeat containing 71Rare Single Gene Mutation, Functional2
SCN8Asodium channel, voltage gated, type VIII, alpha subunit12Rare Single Gene Mutation, Syndromic18
ANK3Ankyrin 3, node of Ranvier (ankyrin G)10Rare Single Gene Mutation, Genetic Association20
HUWE1HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligaseXRare Single Gene Mutation, Syndromic7
GANGigaxonin16Rare Single Gene Mutation1
TPOThyroid peroxidase2Genetic Association1
HLA-DRB1major histocompatibility complex, class II, DR beta 16Genetic Association5
SYT3synaptotagmin III19Rare Single Gene Mutation1
TYRTyrosinase (oculocutaneous albinism IA)11Rare Single Gene Mutation, Functional3
CNTN3contactin 3 (plasmacytoma associated)3Rare Single Gene Mutation4
FAM135BFamily with sequence similarity 135, member B8Rare Single Gene Mutation, Genetic Association2
HDAC6Histone deacetylase 6XRare Single Gene Mutation2
ZBTB16Zinc finger and BTB domain containing 1611Genetic Association1
PCDHA7Protocadherin alpha 75Rare Single Gene Mutation, Genetic Association3
MBD6Methyl-CpG binding domain protein 612Rare Single Gene Mutation1
KCND2Potassium voltage-gated channel, Shal-related subfamily, member 27Rare Single Gene Mutation, Genetic Association4
CHRM3Cholinergic receptor, muscarinic 31Rare Single Gene Mutation3
MCCmutated in colorectal cancers5Rare Single Gene Mutation4
CD38CD38 molecule4Genetic Association, Functional6
FBXO15F-box protein 1518Rare Single Gene Mutation2
CACNA1BCalcium channel, voltage-dependent, N type, alpha 1B subunit9Rare Single Gene Mutation, Genetic Association6
DCXdoublecortex, lissencephaly, X-linked (doublecortin)XRare Single Gene Mutation6
SLC25A27Solute carrier family 25, member 276Genetic Association1
THRAThyroid hormone receptor, alpha17Rare Single Gene Mutation, Functional2
KIF5CKinesin family member 5C2Rare Single Gene Mutation, Syndromic2
CMIPc-Maf inducing protein16Rare Single Gene Mutation, Genetic Association5
PCDHAC2Protocadherin alpha subfamily C, 25Genetic Association3
PCDHAC1Protocadherin alpha subfamily C, 15Genetic Association2
GSNGelsolin9Rare Single Gene Mutation1
EPHB2EPH receptor B21Rare Single Gene Mutation3
DDCDopa decarboxylase (aromatic L-amino acid decarboxylase)7Genetic Association2
PCDHA11Protocadherin alpha 115Rare Single Gene Mutation, Genetic Association4
PCDHA12Protocadherin alpha 125Rare Single Gene Mutation, Genetic Association3
PCDHA13Protocadherin alpha 135Rare Single Gene Mutation, Genetic Association4
ST8SIA2ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 215Rare Single Gene Mutation, Genetic Association7
PHF8PHD finger protein 8XRare Single Gene Mutation, Syndromic7
PCDHA10Protocadherin alpha 105Rare Single Gene Mutation, Genetic Association3
SNX19Sorting nexin 1911Rare Single Gene Mutation2
GNASGNAS complex locus20Rare Single Gene Mutation5
AVPR1Aarginine vasopressin receptor 1A12Rare Single Gene Mutation, Genetic Association318
CYFIP1cytoplasmic FMR1 interacting protein 115Rare Single Gene Mutation, Genetic Association13
PLAURPlasminogen activator, urokinase receptor19Genetic Association1
JARID2Jumonji, AT rich interactive domain 26Rare Single Gene Mutation, Syndromic, Genetic Association9
USP9Yubiquitin specific peptidase 9, Y-linkedYGenetic Association1
PCDHA2Protocadherin alpha 25Rare Single Gene Mutation, Genetic Association4
PCDHA3Protocadherin alpha 35Rare Single Gene Mutation, Genetic Association3
PCDHA1Protocadherin alpha 15Rare Single Gene Mutation, Genetic Association3
PCDHA6Protocadherin alpha 65Rare Single Gene Mutation, Genetic Association3
HCFC1Host cell factor C1 (VP16-accessory protein)XRare Single Gene Mutation, Syndromic6
PCDHA4Protocadherin alpha 45Rare Single Gene Mutation, Genetic Association3
PCDHA5Protocadherin alpha 55Rare Single Gene Mutation, Genetic Association5
PCDHA8Protocadherin alpha 85Rare Single Gene Mutation, Genetic Association3
PCDHA9Protocadherin alpha 95Rare Single Gene Mutation, Genetic Association4
DRD2Dopamine receptor D211Rare Single Gene Mutation, Genetic Association4
PRUNE2prune homolog 2 (Drosophila)9Rare Single Gene Mutation, Syndromic6
LRPPRCLeucine-rich pentatricopeptide repeat containing2Rare Single Gene Mutation, Functional3
ADARB1Adenosine deaminase, RNA-specific, B121Rare Single Gene Mutation, Functional2
SLC39A11Solute carrier family 39 (metal ion transporter), member 1117Genetic Association1
FAT1FAT tumor suppressor homolog 1 (Drosophila)4Rare Single Gene Mutation4
RASSF5Ras association (RalGDS/AF-6) domain family member 51Rare Single Gene Mutation, Genetic Association2
NELL1NEL-like 1 (chicken)11Rare Single Gene Mutation, Genetic Association2
PEX7peroxisomal biogenesis factor 76Rare Single Gene Mutation, Genetic Association3
SCN7ASodium channel, voltage-gated, type VII, alpha subunit2Rare Single Gene Mutation3
POT1Protection of telomeres 1 homolog (S. pombe)7Rare Single Gene Mutation1
FERFer (fps/fes related) tyrosine kinase5Genetic Association1
YTHDC2YTH domain containing 25Rare Single Gene Mutation, Genetic Association4
ARHGAP11BRho GTPase activating protein 11B15Rare Single Gene Mutation1
TMEM231Transmembrane protein 23116Rare Single Gene Mutation, Syndromic2
CNTNAP3contactin associated protein-like 39Rare Single Gene Mutation1
THtyrosine hydroxylase11Rare Single Gene Mutation, Genetic Association7
PCDH8protocadherin 813Rare Single Gene Mutation1
PTPRTprotein tyrosine phosphatase, receptor type, T20Rare Single Gene Mutation8
PTPRCprotein tyrosine phosphatase, receptor type, C1Rare Single Gene Mutation, Genetic Association8
ADAadenosine deaminase20Genetic Association35
ADSLadenylosuccinate lyase22Rare Single Gene Mutation, SyndromicSS5
AUTS2autism susceptibility candidate 27Rare Single Gene Mutation, Syndromic, Genetic Association329
C15orf43chromosome 15 open reading frame 4315Rare Single Gene Mutation41
DLX1distal-less homeobox 12Genetic Association58
GABRA4gamma-aminobutyric acid (GABA) A receptor, alpha 44Rare Single Gene Mutation, Genetic Association46
GABRB1gamma-aminobutyric acid (GABA) A receptor, beta 14Rare Single Gene Mutation, Genetic Association55
GLRA2glycine receptor, alpha 2XRare Single Gene Mutation511
GNA14Guanine nucleotide binding protein (G protein), alpha 149Rare Single Gene Mutation61
GRIP1glutamate receptor interacting protein 112Rare Single Gene Mutation212
GRPRGastrin-releasing peptide receptorXRare Single Gene Mutation, Genetic Association57
GSK3BGlycogen synthase kinase 3 beta3Rare Single Gene Mutation, Functional54
HTR3A5-hydroxytryptamine (serotonin) receptor 3A11Rare Single Gene Mutation, Genetic Association, Functional47
HTR3C5-hydroxytryptamine (serotonin) receptor 3, family member C3Rare Single Gene Mutation, Genetic Association45
HTR75-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)10Rare Single Gene Mutation, Genetic Association65
INPP1inositol polyphosphate-1-phosphatase2Rare Single Gene Mutation, Genetic Association44
ITGB7integrin, beta 712Rare Single Gene Mutation, Functional54
LAMC3laminin, gamma 39Rare Single Gene Mutation58
ASH1LAsh1 (absent, small, or homeotic)-like (Drosophila)1Rare Single Gene Mutation18
ASXL3Additional sex combs like 3 (Drosophila)18Rare Single Gene Mutation, Syndromic1S8
C12orf57Chromosome 12 open reading frame 5712Rare Single Gene Mutation, SyndromicSS8
CC2D1ACoiled-coil and C2 domain containing 1A19Rare Single Gene Mutation, Functional39
MAOAmonoamine oxidase AXRare Single Gene Mutation, Syndromic, Genetic Association413
MBD3methyl-CpG binding domain protein 319Rare Single Gene Mutation44
MSNMoesinXFunctional51
MTX2Metaxin 22Functional51
NPAS2neuronal PAS domain protein 22Genetic Association44
SYT17synaptotagmin XVII16Genetic Association42
TBC1D5TBC1 domain family, member 53Rare Single Gene Mutation46
NIPA2non imprinted in Prader-Willi/Angelman syndrome 215Rare Single Gene Mutation2
RPP25Ribonuclease P/MRP 25kDa subunit15Functional1
YEATS2YEATS domain containing 23Genetic Association1
ZNF827Zinc finger protein 8274Genetic Association1
SDK1Sidekick cell adhesion molecule 17Rare Single Gene Mutation, Genetic Association4
GABRA3Gamma-aminobutyric acid (GABA) A receptor, alpha 3XRare Single Gene Mutation1
NXF5Nuclear RNA export factor 5XRare Single Gene Mutation, Functional4
ZNF407Zinc finger protein 40718Rare Single Gene Mutation, Syndromic5
CHRNB3Cholinergic receptor, nicotinic, beta 3 (neuronal)8Rare Single Gene Mutation1
ZNF517Zinc finger protein 5178Rare Single Gene Mutation2
ABCA10ATP-binding cassette, sub-family A (ABC1), member 1017Rare Single Gene Mutation41
ACEangiotensin I converting enzyme 17Rare Single Gene Mutation, Genetic Association42
ACHEAcetylcholinesterase (Yt blood group) 7Rare Single Gene Mutation34
AHDC1AT-hook DNA binding motif containing 11Rare Single Gene Mutation, Syndromic3S6
AKAP9A kinase (PRKA) anchor protein 9 7Rare Single Gene Mutation34
ALG6ALG6, alpha-1,3-glucosyltransferase1SyndromicSS1
AMPD1Adenosine monophosphate deaminase 11Rare Single Gene Mutation, Genetic Association33
AMTAminomethyltransferase3Rare Single Gene Mutation31
ANK2Ankyrin 2, neuronal4Rare Single Gene Mutation19
ANXA1Annexin A19Rare Single Gene Mutation32
APH1AAPH1A gamma secretase subunit 1Rare Single Gene Mutation32
ARHGAP32Rho GTPase activating protein 3211Rare Single Gene Mutation, Functional44
ARHGAP33Rho GTPase activating protein 3319Rare Single Gene Mutation, Functional52
ATG7Autophagy related 73Functional52
ATP1A3ATPase Na+/K+ transporting subunit alpha 319Rare Single Gene Mutation, Syndromic, FunctionalSS8
ATP8A1ATPase phospholipid transporting 8A1 4Functional51
AVPArginine vasopressin20Genetic Association, Functional54
BCL11AB-cell CLL/lymphoma 11A (zinc finger protein)2Rare Single Gene Mutation, Syndromic2S11
BRAFv-raf murine sarcoma viral oncogene homolog B7Rare Single Gene Mutation, SyndromicSS7
BRINP1BMP/retinoic acid inducible neural specific 19Functional52
C11orf30Chromosome 11 open reading frame 3011Rare Single Gene Mutation, Functional33
CACNA1Ecalcium voltage-gated channel subunit alpha1 E1Rare Single Gene Mutation37
CACNA2D3Calcium channel, voltage-dependent, alpha 2/delta subunit 33Rare Single Gene Mutation24
CACNB2Calcium channel, voltage-dependent, beta 2 subunit10Rare Single Gene Mutation, Genetic Association33
CAMK4Calcium/calmodulin-dependent protein kinase IV5Genetic Association41
CAPRIN1Cell cycle associated protein 111Rare Single Gene Mutation, Functional33
CCDC88CCoiled-coil domain containing 88C14Rare Single Gene Mutation44
CTNND2Catenin (cadherin-associated protein), delta 25Rare Single Gene Mutation24
DPP4Dipeptidyl-peptidase 4 2Rare Single Gene Mutation, Genetic Association45
DSCAMDown syndrome cell adhesion molecule21Rare Single Gene Mutation15
GABRA1Gamma-aminobutyric acid (GABA) A receptor, alpha 15Rare Single Gene Mutation, Functional55
GIGYF2GRB10 interacting GYF protein 22Rare Single Gene Mutation26
GRIN1Glutamate receptor, ionotropic, N-methyl D-aspartate 19Rare Single Gene Mutation, Functional311
CCDC91coiled-coil domain containing 91 12Rare Single Gene Mutation43
CCT4Chaperonin containing TCP1, subunit 4 (delta) 2Rare Single Gene Mutation33
CDC42BPBCDC42 binding protein kinase beta (DMPK-like) 14Rare Single Gene Mutation35
CGNL1Cingulin-like 115Rare Single Gene Mutation32
CHKBCholine kinase beta22Rare Single Gene Mutation, SyndromicSS3
CLN8Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)8Rare Single Gene Mutation, Syndromic43
CLSTN3Calsyntenin 312Rare Single Gene Mutation, Functional52
CNR2Cannabinoid receptor 2 (macrophage)1Genetic Association, Functional53
CNTNAP4Contactin associated protein-like 416Rare Single Gene Mutation, Functional39
CRHR2corticotropin releasing hormone receptor 27Functional53
CUL7Cullin 76Rare Single Gene Mutation33
CUX1cut like homeobox 17Rare Single Gene Mutation, Functional33
CX3CR1Chemokine (C-X3-C motif) receptor 13Functional52
DDX3XDEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linkedXRare Single Gene Mutation3S4
DEAF1DEAF1 transcription factor11Rare Single Gene Mutation, Syndromic2S11
DENRdensity-regulated protein12Rare Single Gene Mutation32
DIP2ADIP2 disco-interacting protein 2 homolog A (Drosophila)21Rare Single Gene Mutation34
DIXDC1DIX domain containing 111Rare Single Gene Mutation, Functional44
DMXL2Dmx-like 2 15Rare Single Gene Mutation42
DNMT3ADNA (cytosine-5-)-methyltransferase 3 alpha 2Rare Single Gene Mutation36
DOCK1Dedicator of cytokinesis 1 10Rare Single Gene Mutation42
DSTDystonin6Rare Single Gene Mutation44
DUSP15dual specificity phosphatase 1520Rare Single Gene Mutation, Genetic Association42
DVL1Dishevelled segment polarity protein 11Functional53
DYDC1DPY30 domain containing 11041
EFR3AEFR3 homolog A (S. cerevisiae)8Rare Single Gene Mutation35
EIF3Geukaryotic translation initiation factor 3 subunit G 19Rare Single Gene Mutation43
ELAVL2ELAV like neuron-specific RNA binding protein 29Rare Single Gene Mutation, Functional44
ELAVL3ELAV like neuron-specific RNA binding protein 319Rare Single Gene Mutation32
ELP4Elongator acetyltransferase complex subunit 411Rare Single Gene Mutation, Genetic Association35
ERBINerbb2 interacting protein5Rare Single Gene Mutation25
ERMNermin2Rare Single Gene Mutation41
ETFBElectron-transfer-flavoprotein, beta polypeptide19Rare Single Gene Mutation32
FABP3Fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)1Functional51
FBN1Fibrillin 115Rare Single Gene Mutation36
GAD1Glutamate decarboxylase 1 (brain, 67kDa)2Rare Single Gene Mutation, Functional55
GADD45BGrowth arrest and DNA-damage-inducible, beta19Rare Single Gene Mutation, Functional54
GATMGlycine amidinotransferase (L-arginine:glycine amidinotransferase) 15SyndromicSS2
GIGYF1GRB10 interacting GYF protein 17Rare Single Gene Mutation32
GPC4glypican 4XRare Single Gene Mutation31
GPHNGephyrin14Rare Single Gene Mutation37
GPR85G protein-coupled receptor 857Rare Single Gene Mutation, Genetic Association44
GRIK4Glutamate receptor, ionotropic, kainate 411Rare Single Gene Mutation, Functional52
GRIK5Glutamate receptor, ionotropic, kainate 519Rare Single Gene Mutation36
GRM7Glutamate receptor, metabotropic 73Rare Single Gene Mutation, Genetic Association413
HCN1Hyperpolarization activated cyclic nucleotide-gated potassium channel 15Rare Single Gene MutationSS5
IQSEC2IQ motif and Sec7 domain 2XRare Single Gene Mutation, Syndromic4S13
KCNQ2Potassium voltage-gated channel, KQT-like subfamily, member 220Rare Single Gene Mutation, Genetic Association313
KDM6BLysine (K)-specific demethylase 6B17Rare Single Gene Mutation36
GRM4Glutamate receptor, metabotropic 46Functional51
HDAC3histone deacetylase 35Rare Single Gene Mutation, Functional55
HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 22Rare Single Gene Mutation34
HLA-BMajor histocompatibility complex, class I, B6Genetic Association43
HYDINHYDIN, axonemal central pair apparatus protein1641
IFNGinterferon gamma12Functional513
IFNGR1interferon gamma receptor 16Functional51
IL17AInterleukin 17A6Functional51
IL6interleukin 67Functional55
ILF2Interleukin enhancer binding factor 2 1Rare Single Gene Mutation24
INTS6Integrator complex subunit 613Rare Single Gene Mutation24
IRF2BPLInterferon regulatory factor 2 binding protein-like 14Rare Single Gene Mutation23
JAKMIP1Janus kinase and microtubule interacting protein 1 4Rare Single Gene Mutation, Functional56
KAT2BK(lysine) acetyltransferase 2B 3Rare Single Gene Mutation25
KAT6AK(lysine) acetyltransferase 6A8Rare Single Gene Mutation, Syndromic3S7
KCNQ3Potassium voltage-gated channel, KQT-like subfamily, member 38Rare Single Gene Mutation, Genetic Association36
KDM4Blysine demethylase 4B19Rare Single Gene Mutation, Functional43
KDM5BLysine (K)-specific demethylase 5B1Rare Single Gene Mutation24
KHDRBS3KH RNA binding domain containing, signal transduction associated 38Functional52
KIAA2022KIAA2022XRare Single Gene Mutation, Syndromic313
KIRREL3Kin of IRRE like 3 (Drosophila)11Rare Single Gene Mutation39
KMT2ALysine (K)-specific methyltransferase 2A11Rare Single Gene Mutation, Syndromic2S11
KMT2CLysine (K)-specific methyltransferase 2C 7Rare Single Gene Mutation28
MED13LMediator complex subunit 13-like12Rare Single Gene Mutation, Syndromic213
NAA15N(alpha)-acetyltransferase 15, NatA auxiliary subunit 4Rare Single Gene Mutation14
PACS1phosphofurin acidic cluster sorting protein 111SyndromicSS3
PAHPhenylalanine hydroxylase12Rare Single Gene Mutation, Syndromic32
PIK3R2Phosphoinositide-3-kinase, regulatory subunit 2 (beta)19Rare Single Gene Mutation, SyndromicSS3
KMT2ELysine (K)-specific methyltransferase 2E7Rare Single Gene Mutation33
KRR1KRR1, small subunit (SSU) processome component, homolog (yeast)12Genetic Association41
LRBALPS-responsive vesicle trafficking, beach and anchor containing 4Rare Single Gene Mutation43
LZTR1Leucine-zipper-like transcription regulator 122Rare Single Gene Mutation32
MAGEL2MAGE-like 215Rare Single Gene Mutation, Syndromic2S7
MBOAT7membrane bound O-acyltransferase domain containing 719Rare Single Gene Mutation, Syndromic2S2
MCM4minichromosome maintenance complex component 4 8Rare Single Gene Mutation42
MFRPMembrane frizzled-related protein 11Rare Single Gene Mutation34
MIB1Mindbomb E3 ubiquitin protein ligase 118Rare Single Gene Mutation43
MNTMAX network transcriptional repressor17Genetic Association41
MOCOSMolybdenum cofactor sulfurase18Rare Single Gene Mutation, Functional52
MTORMechanistic target of rapamycin (serine/threonine kinase)1Rare Single Gene Mutation, Functional39
MTR5-methyltetrahydrofolate-homocysteine methyltransferase1Rare Single Gene Mutation, Functional55
MYH4Myosin, heavy chain 4, skeletal muscle17Rare Single Gene Mutation42
MYO9BMyosin IXB19Rare Single Gene Mutation32
MYT1LMyelin transcription factor 1-like2Rare Single Gene Mutation, Syndromic, Genetic Association112
NAV2neuron navigator 211Rare Single Gene Mutation36
NCKAP1NCK-associated protein 12Rare Single Gene Mutation26
NEO1Neogenin 11541
NFIXnuclear factor I/X (CCAAT-binding transcription factor)19Rare Single Gene Mutation, SyndromicSS4
NINLNinein-like 20Rare Single Gene Mutation33
NR2F1nuclear receptor subfamily 2 group F member 15Rare Single Gene Mutation, Syndromic4S6
NR3C2Nuclear receptor subfamily 3, group C, member 24Rare Single Gene Mutation33
NRG1Neuregulin 18Functional54
NUAK1NUAK family, SNF1-like kinase, 112Rare Single Gene Mutation35
NUP133nucleoporin 133kDa1Rare Single Gene Mutation44
OCRLoculocerebrorenal syndrome of LoweXSyndromicSS4
OR2M4Olfactory receptor, family 2, subfamily M, member 41Genetic Association41
OR2T10olfactory receptor family 2 subfamily T member 10 1Rare Single Gene Mutation43
OR52M1Olfactory receptor, family 52, subfamily M, member 1 11Rare Single Gene Mutation32
OXToxytocin/neurophysin I prepropeptide20Genetic Association44
P2RX4Purinergic receptor P2X, ligand-gated ion channel, 412Functional51
P2RX5Purinergic receptor P2X, ligand gated ion channel, 517Rare Single Gene Mutation32
PAFAH1B1Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)17Functional52
PAX5Paired box 59Rare Single Gene Mutation33
PAX6Paired box 611Rare Single Gene Mutation, Syndromic, FunctionalSS6
PHF2PHD finger protein 29Rare Single Gene Mutation34
PHRF1PHD and ring finger domains 1 11Rare Single Gene Mutation34
POU3F2POU class 3 homeobox 26Rare Single Gene Mutation, Functional53
PPP2R1Bprotein phosphatase 2 regulatory subunit A, beta11Rare Single Gene Mutation43
PPP2R5DProtein phosphatase 2, regulatory subunit B', delta6Rare Single Gene Mutation, Syndromic4S6
PREX1Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 20Genetic Association31
PRICKLE1Prickle homolog 1 (Drosophila)12Rare Single Gene Mutation, Syndromic, Functional34
PRICKLE2Prickle homolog 2 (Drosophila)3Rare Single Gene Mutation, Functional33
PRKDCprotein kinase, DNA-activated, catalytic polypeptide8Rare Single Gene Mutation, Syndromic, Functional43
PTK7Protein tyrosine kinase 7 (inactive) 6Rare Single Gene Mutation34
RIT2Ras-like without CAAX 218Genetic Association43
SLC6A1Solute carrier family 6 (neurotransmitter transporter), member 13Rare Single Gene Mutation210
SRRM4Serine/arginine repetitive matrix 412Rare Single Gene Mutation, Functional55
TCF4Transcription factor 418Rare Single Gene Mutation, Syndromic, Genetic AssociationSS28
TNRC6BTrinucleotide repeat containing 6B22Rare Single Gene Mutation25
TRIOTrio Rho guanine nucleotide exchange factor 5Rare Single Gene Mutation315
PRODHProline dehydrogenase (oxidase) 122Syndromic, Genetic Association3S5
PTBP2polypyrimidine tract binding protein 21Rare Single Gene Mutation43
PVALBParvalbumin22Functional51
PYHIN1Pyrin and HIN domain family, member 11Rare Single Gene Mutation34
RAB2ARAB2A, member RAS oncogene family8Rare Single Gene Mutation36
RIMS1Regulating synaptic membrane exocytosis 16Rare Single Gene Mutation23
RNF135Ring finger protein 135 17Syndromic, Genetic Association4S2
RPS6KA3Ribosomal protein S6 kinase, 90kDa, polypeptide 3XRare Single Gene Mutation, Syndromic4S9
SCN4ASodium channel, voltage gated, type IV alpha subunit 17Rare Single Gene Mutation42
SETBP1SET binding protein 118Rare Single Gene Mutation, Syndromic39
SGSHN-sulfoglucosamine sulfohydrolase17SyndromicSS4
SHOXshort stature homeoboxYRare Single Gene Mutation32
SLC12A5Solute carrier family 12 (potassium/chloride transporter), member 5 20Rare Single Gene Mutation34
SLC1A2Solute carrier family 1 (glial high affinity glutamate transporter), member 211Rare Single Gene Mutation, Genetic Association, FunctionalSS6
SLC22A9solute carrier family 22 member 911Rare Single Gene Mutation43
SLC27A4Solute carrier family 27 (fatty acid transporter), member 4 9Rare Single Gene Mutation41
SLC30A3solute carrier family 30 member 32Functional52
SLC33A1solute carrier family 33 member 13Functional54
SLC6A3Solute carrier family 6 (neurotransmitter transporter), member 35Rare Single Gene Mutation, Genetic Association311
SLC7A3Solute carrier family 7 (cationic amino acid transporter, y+ system), member 3XRare Single Gene Mutation32
SMARCA2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 29Rare Single Gene Mutation, Syndromic, Genetic AssociationSS9
SMARCC2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 212Rare Single Gene Mutation, Syndromic, Functional37
SNX14Sorting nexin 146Rare Single Gene Mutation, SyndromicSS4
SPARCL1SPARC like 14Rare Single Gene Mutation, Functional33
STAT1signal transducer and activator of transcription 12Rare Single Gene Mutation, Functional52
STXBP5Syntaxin binding protein 5 (tomosyn) 6Rare Single Gene Mutation36
STYK1Serine/threonine/tyrosine kinase 112Genetic Association41
SYN3Synapsin III22Functional51
TAF1TATA-box binding protein associated factor 1XRare Single Gene Mutation, SyndromicSS3
TCF20Transcription factor 20 (AR1)22Rare Single Gene Mutation35
TCF7L2Transcription factor 7-like 2 (T-cell specific, HMG-box)10Rare Single Gene Mutation32
TERF2Telomeric repeat binding factor 216Rare Single Gene Mutation33
TERTtelomerase reverse transcriptase 5Rare Single Gene Mutation, Functional52
TOP1Topoisomerase (DNA) I20Rare Single Gene Mutation, Functional56
TRPC6Transient receptor potential cation channel, subfamily C, member 6 11Rare Single Gene Mutation32
TRPM1Transient receptor potential cation channel, subfamily M, member 115Rare Single Gene Mutation33
WACWW domain containing adaptor with coiled-coil10Rare Single Gene Mutation, Syndromic2S9
WDFY3WD repeat and FYVE domain containing 34Rare Single Gene Mutation, Functional29
TSHZ3teashirt zinc finger homeobox 319Rare Single Gene Mutation42
UBA6Ubiquitin-like modifier activating enzyme 64Functional52
UCN3urocortin 310Functional51
UPF2UPF2 regulator of nonsense transcripts homolog (yeast)10Rare Single Gene Mutation54
USP7Ubiquitin specific peptidase 7 (herpes virus-associated) 16Rare Single Gene Mutation, Syndromic25
VIL1Villin 12Rare Single Gene Mutation31
VLDLRVery low density lipoprotein receptor9Functional53
VSIG4V-set and immunoglobulin domain containing 4XRare Single Gene Mutation42
WWOXWW domain containing oxidoreductase16Rare Single Gene Mutation37
ZBTB20Zinc finger and BTB domain containing 203Rare Single Gene Mutation, Syndromic3S15
ZMYND11Zinc finger, MYND-type containing 1110Rare Single Gene Mutation, Syndromic38
ZNF559Zinc finger protein 559 19Rare Single Gene Mutation43
ZWILCHzwilch kinetochore protein15Rare Single Gene Mutation43
DLG1Discs, large homolog 1 (Drosophila)3Rare Single Gene Mutation2
SMG6Smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)17Rare Single Gene Mutation2
SLITRK5SLIT and NTRK-like family, member 513Rare Single Gene Mutation, Functional8
SNAP25Synaptosomal-associated protein, 25kDa20Rare Single Gene Mutation, Genetic Association5
TTI2TELO2 interacting protein 28Rare Single Gene Mutation1
SYAP1Synapse associated protein 1XRare Single Gene Mutation2
CEP290Centrosomal protein 290kDa12Rare Single Gene Mutation, Syndromic6
CELF6CUGBP, Elav-like family member 615Genetic Association1
GRM1Glutamate receptor, metabotropic 16Rare Single Gene Mutation, Genetic Association6
TM4SF20Transmembrane 4 L six family member 202Rare Single Gene Mutation1
ABCA7ATP-binding cassette, sub-family A (ABC1), member 719Rare Single Gene Mutation2
AP1S2Adaptor-related protein complex 1, sigma 2 subunitXRare Single Gene Mutation, Syndromic5
EEF1A2Eukaryotic translation elongation factor 1 alpha 220Rare Single Gene Mutation, Syndromic7
SLIT3Slit homolog 3 (Drosophila)5Rare Single Gene Mutation2
GRID2IPGlutamate receptor, ionotropic, delta 2 (Grid2) interacting protein7Rare Single Gene Mutation1
ALDH1A3Aldehyde dehydrogenase 1 family, member A315Rare Single Gene Mutation, Syndromic5
NOS1Nitric oxide synthase 1 (neuronal)12Rare Single Gene Mutation2
EXOC3Exocyst complex component 35Rare Single Gene Mutation1
EXOC5Exocyst complex component 514Rare Single Gene Mutation2
OGTO-linked N-acetylglucosamine (GlcNAc) transferaseXRare Single Gene Mutation, Functional4
ZNF462Zinc finger protein 4629Rare Single Gene Mutation4
FGAFibrinogen alpha chain4Genetic Association1
LPLLipoprotein lipase8Rare Single Gene Mutation1
KPTNKaptin (actin binding protein)19Rare Single Gene Mutation2
APPAmyloid beta (A4) precursor protein21Functional3
VIPVasoactive intestinal peptide6Rare Single Gene Mutation, Functional6
CSMD1CUB and Sushi multiple domains 18Rare Single Gene Mutation, Genetic Association9
ACY1Aminoacylase 13Syndromic5
SLC29A4Solute carrier family 29 (equilibrative nucleoside transporter), member 47Rare Single Gene Mutation1
RNPS1RNA binding protein S1, serine-rich domain161
SLC24A2Solute carrier family 24 (sodium/potassium/calcium exchanger), member 29Rare Single Gene Mutation2
MAOBMonoamine oxidase BXGenetic Association3
SCN5ASodium channel, voltage-gated, type V, alpha subunit3Rare Single Gene Mutation2
RAB19RAB19, member RAS oncogene family7Rare Single Gene Mutation1
CDKN1BCyclin-dependent kinase inhibitor 1B (p27, Kip1)121
CADM2Cell adhesion molecule 23Genetic Association3
ADORA3Adenosine A3 receptor1Rare Single Gene Mutation, Functional2
TET2Tet methylcytosine dioxygenase 24Rare Single Gene Mutation3
EXOC6Exocyst complex component 610Rare Single Gene Mutation1
PTPRBProtein Tyrosine Phosphatase, Receptor Type, B12Rare Single Gene Mutation, Genetic Association2
KIF13BKinesin family member 13B8Rare Single Gene Mutation3
RLIMRing finger protein, LIM domain interactingXRare Single Gene Mutation, Syndromic2
SAE1SUMO1 activating enzyme subunit 119Rare Single Gene Mutation3
LIN7BLin-7 homolog B (C. elegans)191
CACNA1ACalcium channel, voltage-dependent, P/Q type, alpha 1A subunit19Rare Single Gene Mutation, Genetic Association8
MPP6Membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)7Rare Single Gene Mutation3
DLGAP3Discs, large (Drosophila) homolog-associated protein 31Rare Single Gene Mutation, Genetic Association, Functional7
DLGAP1Discs, large (Drosophila) homolog-associated protein 118Rare Single Gene Mutation5
PPFIA1Protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 111Rare Single Gene Mutation2
KITV-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog4Syndromic1
UTRNUtrophin6Rare Single Gene Mutation1
RAB43RAB43, member RAS oncogene family3Rare Single Gene Mutation2
GRIK3Glutamate receptor, ionotropic, kainate 31Rare Single Gene Mutation1
DOCK4Dedicator of cytokinesis 47Rare Single Gene Mutation, Genetic Association7
GDAGuanine deaminase9Rare Single Gene Mutation1
ARHGEF9Cdc42 guanine nucleotide exchange factor (GEF) 9XRare Single Gene Mutation4
SYN2Synapsin II3Rare Single Gene Mutation, Genetic Association, Functional6
STX1ASyntaxin 1A (brain)7Rare Single Gene Mutation, Genetic Association6
KMOKynurenine 3-monooxygenase (kynurenine 3-hydroxylase)1Functional1
ADAMTS18ADAM metallopeptidase with thrombospondin type 1 motif, 1816Rare Single Gene Mutation1
DOCK10Dedicator of cytokinesis 102Rare Single Gene Mutation1
SIK1Salt-inducible kinase 121Rare Single Gene Mutation5
RBM8ARNA binding motif protein 8A1Rare Single Gene Mutation, Functional5
ZNF385BZinc finger protein 385B 2Genetic Association2
KCNJ2Potassium inwardly-rectifying channel, subfamily J, member 2 17Rare Single Gene Mutation1
WNT1Wingless-type MMTV integration site family, member 112Genetic Association3
IL16Interleukin 1615Rare Single Gene Mutation1
CDH11Cadherin 11, type 2, OB-cadherin (osteoblast)16Rare Single Gene Mutation3
SLCO1B3Solute carrier organic anion transporter family, member 1B3 12Rare Single Gene Mutation2
GPD2Glycerol-3-phosphate dehydrogenase 2 (mitochondrial)2Rare Single Gene Mutation, Genetic Association4
ZNF804AZinc finger protein 804A2Rare Single Gene Mutation, Genetic Association10
DRD1Dopamine receptor D15Genetic Association, Functional4
KANK1KN motif and ankyrin repeat domains 19Rare Single Gene Mutation6
DOLKDolichol kinase9Syndromic1
DNAH10Dynein, axonemal, heavy chain 1012Rare Single Gene Mutation4
UPB1Ureidopropionase, beta22Rare Single Gene Mutation1
BDNFBrain-derived neurotrophic factor 11Functional9
SOD1Superoxide dismutase 1, soluble21Genetic Association, Functional2
FAN1FANCD2/FANCI-associated nuclease 115Rare Single Gene Mutation1
DEPDC5DEP domain containing 522Rare Single Gene Mutation, Syndromic3
INADLInaD-like (Drosophila)1Rare Single Gene Mutation1
PXDNPeroxidasin homolog (Drosophila)2Rare Single Gene Mutation3
RASD1RAS, dexamethasone-induced 117Functional1
KCNJ12Potassium inwardly-rectifying channel, subfamily J, member 1217Rare Single Gene Mutation1
TRIM33Tripartite motif containing 331Genetic Association1
THBS1Thrombospondin 115Genetic Association1
PTGER3Prostaglandin E receptor 3 (subtype EP3)1Rare Single Gene Mutation1
POMGNT1Protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase1Rare Single Gene Mutation, Syndromic2
RBM27RNA binding motif protein 275Rare Single Gene Mutation2
MAPK12Mitogen-activated protein kinase 1222Rare Single Gene Mutation1
TBC1D7TBC1 domain family, member 76Rare Single Gene Mutation, Functional4
DAGLADiacylglycerol lipase, alpha11Rare Single Gene Mutation, Functional2
ANKS1BAnkyrin repeat and sterile alpha motif domain containing 1B12Rare Single Gene Mutation1
BIRC6Baculoviral IAP repeat containing 62Rare Single Gene Mutation4
BCAS1Breast carcinoma amplified sequence 120Rare Single Gene Mutation2
TBC1D31TBC1 domain family, member 318Rare Single Gene Mutation2
DGKZDiacylglycerol kinase, zeta11Rare Single Gene Mutation2
EXOC6BExocyst complex component 6B2Rare Single Gene Mutation3
CHD2Chromodomain helicase DNA binding protein 215Rare Single Gene Mutation, Syndromic2S18
MSNP1ASMoesin pseudogene 1, antisense5Genetic Association, Functional210
SETD5SET domain containing 53Rare Single Gene Mutation, Syndromic1S15
TOP3BTopoisomerase (DNA) III beta22Rare Single Gene Mutation, Genetic Association, Functional45
KCNJ15Potassium inwardly-rectifying channel, subfamily J, member 1521Rare Single Gene Mutation2
TNNTenascin N1Rare Single Gene Mutation3
ACTN4Actinin, alpha 419Rare Single Gene Mutation3
MYOZ1Myozenin 110Rare Single Gene Mutation1
CAPN12Calpain 1219Rare Single Gene Mutation44
CTCFCCCTC-binding factor (zinc finger protein)16Rare Single Gene Mutation, Functional39
CYLC2cylicin, basic protein of sperm head cytoskeleton 2 9Rare Single Gene Mutation43
DGKKdiacylglycerol kinase kappa XFunctional51
DVL3Dishevelled segment polarity protein 33Rare Single Gene Mutation, Functional43
DYDC2DPY30 domain containing 21041
FAM92BFamily with sequence similarity 92, member B16Rare Single Gene Mutation32
GABRA5gamma-aminobutyric acid type A receptor alpha5 subunit15Genetic Association, Functional57
GLIS1GLIS family zinc finger 11Genetic Association41
MALmal, T-cell differentiation protein2Functional52
NAALADL2N-acetylated alpha-linked acidic dipeptidase-like 2 3Genetic Association41
P4HA2Prolyl 4-hydroxylase, alpha polypeptide II5Rare Single Gene Mutation34
RANBP17RAN binding protein 175Rare Single Gene Mutation23
SIN3ASIN3 transcription regulator family member A 15Rare Single Gene Mutation, Syndromic4S5
SSPOSCO-spondin 7Rare Single Gene Mutation43
USP45Ubiquitin specific peptidase 456Rare Single Gene Mutation32
WDR93WD repeat domain 9315Rare Single Gene Mutation51
ZNF713Zinc finger protein 7137Rare Single Gene Mutation41
CECR2Cat eye syndrome chromosome region, candidate 222Rare Single Gene Mutation2
BBS4Bardet-Biedl syndrome 415Rare Single Gene Mutation, Syndromic2
MC4RMelanocortin 4 receptor18Functional2
SRD5A2Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)2Rare Single Gene Mutation, Genetic Association3
EPS8Epidermal growth factor receptor pathway substrate 812Functional1
SLC35A3Solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A31Rare Single Gene Mutation1
NLGN2Neuroligin 217Rare Single Gene Mutation, Functional5
LRP2BPLRP2 binding protein4Rare Single Gene Mutation1
THAP8THAP domain containing 819Rare Single Gene Mutation1
ZNF774Zinc finger protein 77415Rare Single Gene Mutation2
ASMTacetylserotonin O-methyltransferaseYRare Single Gene Mutation, Genetic Association49
AVPR1Barginine vasopressin receptor 1B1Genetic Association, Functional48
CAMK2Acalcium/calmodulin dependent protein kinase II alpha5Rare Single Gene Mutation, Functional42
CASKcalcium/calmodulin dependent serine protein kinase XRare Single Gene Mutation, Syndromic47
CNKSR2connector enhancer of kinase suppressor of Ras 2X3S1
CNOT3CCR4-NOT transcription complex subunit 319Rare Single Gene Mutation4S2
DOCK8dedicator of cytokinesis 89Rare Single Gene Mutation35
HIVEP3human immunodeficiency virus type I enhancer binding protein 3 1Rare Single Gene Mutation32
ITPR1inositol 1,4,5-trisphosphate receptor type 13Rare Single Gene Mutation45
NACC1nucleus accumbens associated 119Rare Single Gene Mutation, Syndromic4S3
NCOR1nuclear receptor corepressor 117Rare Single Gene Mutation43
PGLYRP2peptidoglycan recognition protein 219Rare Single Gene Mutation, Functional52
PHIPpleckstrin homology domain interacting protein6Rare Single Gene Mutation45
PLXNB1plexin B13Rare Single Gene Mutation33
PSMD12proteasome 26S subunit, non-ATPase 1217SyndromicSS1
SCN9Asodium voltage-gated channel alpha subunit 92Rare Single Gene Mutation24
SHOXshort stature homeoboxXRare Single Gene Mutation32
SLC7A5solute carrier family 7 member 516Functional31
SMC3structural maintenance of chromosomes 3 10Rare Single Gene Mutation43
SRCAPSnf2 related CREBBP activator protein16Rare Single Gene Mutation34
SRGAP3SLIT-ROBO Rho GTPase activating protein 33Rare Single Gene Mutation43
STAG1stromal antigen 13SyndromicSS1
TANC2etratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 17Rare Single Gene Mutation43
UNC13Aunc-13 homolog A19Rare Single Gene Mutation, Syndromic4S3
UNC80unc-80 homolog, NALCN activator2Rare Single Gene Mutation43
ZC3H4zinc finger CCCH-type containing 419Rare Single Gene Mutation32
ZNF292zinc finger protein 2926Rare Single Gene Mutation42
HDChistidine decarboxylase15Rare Single Gene Mutation, Functional56
IQGAP3IQ motif containing GTPase activating protein 31Rare Single Gene Mutation42
PCCApropionyl-CoA carboxylase alpha subunit13SyndromicSS9
PCCBpropionyl-CoA carboxylase beta subunit3SyndromicSS7
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