Gene Scoring  /  Category 4   437 genes

Database updated on November 21, 2018

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Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ABCA10ATP-binding cassette, sub-family A (ABC1), member 1017Rare Single Gene Mutation41
ABCA13ATP binding cassette subfamily A member 137Rare Single Gene Mutation, Functional45
ABCA7ATP-binding cassette, sub-family A (ABC1), member 719Rare Single Gene Mutation42
ACEangiotensin I converting enzyme17Rare Single Gene Mutation, Genetic Association42
ADCY5Adenylate cyclase 53Rare Single Gene Mutation46
ADKadenosine kinase10Rare Single Gene Mutation42
ADORA3Adenosine A3 receptor1Rare Single Gene Mutation, Functional42
AFF2AF4/FMR2 family, member 2XRare Single Gene Mutation, Syndromic414
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
AGO1argonaute 1, RISC catalytic component1Rare Single Gene Mutation42
AGTR2angiotensin II receptor, type 2XRare Single Gene Mutation43
APBA2amyloid beta (A4) precursor protein-binding, family A, member 215Rare Single Gene Mutation46
ARHGAP32Rho GTPase activating protein 3211Rare Single Gene Mutation, Functional45
ARHGAP5Rho GTPase activating protein 514Rare Single Gene Mutation43
ARHGEF10Rho guanine nucleotide exchange factor 108Rare Single Gene Mutation, Functional43
ARHGEF9Cdc42 guanine nucleotide exchange factor (GEF) 9XRare Single Gene Mutation, Syndromic4S8
ARNT2aryl-hydrocarbon receptor nuclear translocator 215Rare Single Gene Mutation, Syndromic, Genetic Association411
ABAT4-aminobutyrate aminotransferase16Genetic Association44
ACTN4actinin alpha 419Rare Single Gene Mutation44
ADORA2Aadenosine A2a receptor22Syndromic47
ADRB2adrenergic, beta-2-, receptor, surface5Genetic Association410
ASMTacetylserotonin O-methyltransferaseX,YRare Single Gene Mutation, Genetic Association49
ARandrogen receptorXGenetic Association46
ATP1A3ATPase Na+/K+ transporting subunit alpha 319Rare Single Gene Mutation, Syndromic, Functional4S13
ATP6V0A2ATPase H+ transporting V0 subunit a212Rare Single Gene Mutation42
ATRXalpha thalassemia/mental retardation syndrome X-linkedXRare Single Gene Mutation, Syndromic417
AVPR1Barginine vasopressin receptor 1B1Genetic Association, Functional48
AZGP1alpha-2-glycoprotein 1, zinc-binding7Rare Single Gene Mutation42
BBS4Bardet-Biedl syndrome 415Rare Single Gene Mutation, Syndromic43
BIRC6Baculoviral IAP repeat containing 62Rare Single Gene Mutation47
BRCA2breast cancer 2, early onset13Rare Single Gene Mutation43
BRD4bromodomain containing 419Rare Single Gene Mutation, Syndromic44
BST1bone marrow stromal cell antigen 14Genetic Association, Functional45
C15orf62chromosome 15 open reading frame 6215Rare Single Gene Mutation42
C3orf58chromosome 3 open reading frame 583Rare Single Gene Mutation43
C4Bcomplement component 4B6Genetic Association, Functional45
CA6carbonic anhydrase VI1Rare Single Gene Mutation46
BICDL1BICD family like cargo adaptor 112Genetic Association42
CACNA1Fcalcium channel, voltage-dependent, alpha 1FXRare Single Gene Mutation, Genetic Association47
CACNA1Gcalcium channel, voltage-dependent, T type, alpha 1G subunit17Rare Single Gene Mutation, Syndromic, Genetic Association419
CACNA1ICalcium channel, voltage-dependent, T type, alpha 1I subunit22Rare Single Gene Mutation, Genetic Association46
CADM1cell adhesion molecule 111Rare Single Gene Mutation49
CADM2Cell adhesion molecule 23Genetic Association43
CADPS2Ca2+-dependent activator protein for secretion 27Rare Single Gene Mutation, Functional412
CAMK2Acalcium/calmodulin dependent protein kinase II alpha5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional4S7
CAMK4Calcium/calmodulin-dependent protein kinase IV5Genetic Association41
CAPN12Calpain 1219Rare Single Gene Mutation44
CARD11caspase recruitment domain family member 117Rare Single Gene Mutation41
CASC4cancer susceptibility candidate 415Rare Single Gene Mutation44
CASKcalcium/calmodulin dependent serine protein kinaseXRare Single Gene Mutation, Syndromic412
CCDC88CCoiled-coil domain containing 88C14Rare Single Gene Mutation45
CCDC91coiled-coil domain containing 9112Rare Single Gene Mutation43
CD276CD276molecule15Rare Single Gene Mutation41
CD38CD38 molecule4Genetic Association, Functional47
CD99L2CD99 molecule like 2XGenetic Association41
CDH10cadherin 10, type 2 (T2-cadherin)5Rare Single Gene Mutation, Genetic Association49
CDH11cadherin 1116Rare Single Gene Mutation43
CDH22cadherin-like 2220Genetic Association44
CDH8cadherin 8, type 216Rare Single Gene Mutation49
BCAS1breast carcinoma amplified sequence 120Rare Single Gene Mutation42
CACNA1Bcalcium voltage-gated channel subunit alpha1 B9Rare Single Gene Mutation, Genetic Association47
CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 17Rare Single Gene Mutation43
CDH9cadherin 9, type 2 (T1-cadherin)5Rare Single Gene Mutation, Genetic Association46
CECR2CECR2, histone acetyl-lysine reader22Rare Single Gene Mutation42
CELF6CUGBP, Elav-like family member 615Rare Single Gene Mutation, Genetic Association42
CHD1chromodomain helicase DNA binding protein 15Rare Single Gene Mutation4S3
CHRM3cholinergic receptor muscarinic 31Rare Single Gene Mutation, Genetic Association45
CHRNB3cholinergic receptor nicotinic beta 3 subunit8Rare Single Gene Mutation41
CLN8Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)8Rare Single Gene Mutation, Syndromic43
CLTCL1clathrin, heavy chain-like 122Rare Single Gene Mutation45
CMIPc-Maf inducing protein16Rare Single Gene Mutation, Genetic Association46
CNGB3cyclic nucleotide gated channel beta 38Rare Single Gene Mutation42
CNTNAP5contactin associated protein-like 52Rare Single Gene Mutation, Genetic Association411
COL28A1collagen type XXVIII alpha 1 chain7Rare Single Gene Mutation42
CPT2carnitine palmitoyltransferase 21Rare Single Gene Mutation42
CSMD1CUB and Sushi multiple domains 18Rare Single Gene Mutation, Genetic Association411
CSNK1Ecasein kinase 1 epsilon22Rare Single Gene Mutation, Functional45
CTNNA3catenin (cadherin-associated protein), alpha 310Rare Single Gene Mutation, Genetic Association414
CUX2cut like homeobox 212Rare Single Gene Mutation, Syndromic4S7
CX3CR1Chemokine (C-X3-C motif) receptor 13Rare Single Gene Mutation, Functional43
CYLC2cylicin, basic protein of sperm head cytoskeleton 29Rare Single Gene Mutation43
CYP11B1cytochrome P450, family 11, subfamily B, polypeptide 18Syndromic44
DAGLAdiacylglycerol lipase alpha11Rare Single Gene Mutation, Functional44
DDCdopa decarboxylase7Genetic Association42
DDX53DEAD (Asp-Glu-Ala-Asp) box polypeptide 53XRare Single Gene Mutation43
DIXDC1DIX domain containing 111Rare Single Gene Mutation, Functional44
DLG1discs large MAGUK scaffold protein 13Rare Single Gene Mutation43
DLGAP2discs, large (Drosophila) homolog-associated protein 28Rare Single Gene Mutation412
DLX6distal-less homeobox 67Rare Single Gene Mutation49
DMXL2Dmx-like 215Rare Single Gene Mutation43
DNAH10Dynein, axonemal, heavy chain 1012Rare Single Gene Mutation45
DNAH17dynein axonemal heavy chain 1717Rare Single Gene Mutation44
DNAH3dynein axonemal heavy chain 316Rare Single Gene Mutation43
DNERDelta/notch-like EGF repeat containing2Rare Single Gene Mutation, Genetic Association42
DOCK1Dedicator of cytokinesis 110Rare Single Gene Mutation42
DOCK4Dedicator of cytokinesis 47Rare Single Gene Mutation, Genetic Association48
DLX2distal-less homeobox 22Genetic Association411
DPP4Dipeptidyl-peptidase 42Rare Single Gene Mutation, Genetic Association46
DPP6dipeptidyl-peptidase 67Rare Single Gene Mutation, Genetic Association, Functional423
DPYDdihydropyrimidine dehydrogenase1Rare Single Gene Mutation, Genetic Association49
DPYSL3dihydropyrimidinase like 35Rare Single Gene Mutation42
DRD1Dopamine receptor D15Genetic Association, Functional44
DRD2Dopamine receptor D211Rare Single Gene Mutation, Genetic Association46
DRD3dopamine receptor D33Rare Single Gene Mutation, Genetic Association48
DSTDystonin6Rare Single Gene Mutation44
DUSP15dual specificity phosphatase 1520Rare Single Gene Mutation, Genetic Association43
DVL3Dishevelled segment polarity protein 33Rare Single Gene Mutation, Functional43
DYDC1DPY30 domain containing 11041
DYDC2DPY30 domain containing 21041
EIF3Geukaryotic translation initiation factor 3 subunit G19Rare Single Gene Mutation43
EIF4Eeukaryotic translation initiation factor 4E4Rare Single Gene Mutation, Genetic Association412
ELAVL2ELAV like neuron-specific RNA binding protein 29Rare Single Gene Mutation, Genetic Association, Functional45
EN2engrailed homolog 27Rare Single Gene Mutation, Genetic Association, Functional421
EP300E1A binding protein p30022Rare Single Gene Mutation, Syndromic4S16
EPC2Enhancer of polycomb homolog 2 (Drosophila)2Rare Single Gene Mutation44
EPHB2EPH receptor B21Rare Single Gene Mutation43
EPPK1epiplakin 18Rare Single Gene Mutation43
ERGERG, ETS transcription factor21Genetic Association41
ERMNermin2Rare Single Gene Mutation41
ESR2estrogen receptor 2 (ER beta)14Rare Single Gene Mutation, Syndromic, Genetic Association48
ESRRBestrogen-related receptor beta14Rare Single Gene Mutation, Genetic Association47
EXOC6Bexocyst complex component 6B2Rare Single Gene Mutation43
EXT1Exostosin 18Rare Single Gene Mutation, Genetic Association46
FABP5fatty acid binding protein 5 (psoriasis-associated)8Rare Single Gene Mutation, Functional46
FAM47Afamily with sequence similarity 47 member AXRare Single Gene Mutation41
FAN1FANCD2/FANCI-associated nuclease 115Rare Single Gene Mutation41
FAT1FAT atypical cadherin 14Rare Single Gene Mutation44
FBXO33F-box protein 3314Genetic Association43
FBXO40F-box protein 403Rare Single Gene Mutation, Genetic Association44
FCRL6Fc receptor like 61Rare Single Gene Mutation44
FEZF2FEZ family zinc finger 23Rare Single Gene Mutation, Genetic Association48
FGAFibrinogen alpha chain4Genetic Association41
FHITfragile histidine triad gene3Rare Single Gene Mutation, Genetic Association412
FRKfyn-related kinase6Rare Single Gene Mutation, Genetic Association43
GABBR2gamma-aminobutyric acid type B receptor subunit 29Rare Single Gene Mutation, Syndromic, Functional4S10
GABRA4gamma-aminobutyric acid (GABA) A receptor, alpha 44Rare Single Gene Mutation, Genetic Association46
GALNT13polypeptide N-acetylgalactosaminyltransferase 132Rare Single Gene Mutation44
GALNT14polypeptide N-acetylgalactosaminyltransferase 142Rare Single Gene Mutation, Genetic Association44
GAS2Growth arrest-specific 211Genetic Association41
GDAguanine deaminase9Rare Single Gene Mutation, Genetic Association42
GLIS1GLIS family zinc finger 11Rare Single Gene Mutation, Genetic Association42
GLO1glyoxalase I6Genetic Association49
EXOC3exocyst complex component 35Rare Single Gene Mutation41
EXOC5exocyst complex component 514Rare Single Gene Mutation42
FBXO11F-box protein 112Rare Single Gene Mutation, Syndromic4S4
GNASGNAS complex locus20Rare Single Gene Mutation48
GNB1Lguanine nucleotide binding protein (G protein), beta polypeptide 1-like22Rare Single Gene Mutation, Genetic Association42
GPC6glypican 613Rare Single Gene Mutation, Genetic Association48
GPR37G protein-coupled receptor 377Rare Single Gene Mutation42
GPR85G protein-coupled receptor 857Rare Single Gene Mutation, Genetic Association44
GPX1glutathione peroxidase 13Genetic Association45
GRID2glutamate receptor, ionotropic, delta 24Rare Single Gene Mutation, Syndromic, Genetic Association49
GRIN2Aglutamate receptor, ionotropic, N-methyl D-aspartate 2A16Rare Single Gene Mutation, Syndromic, Genetic Association435
GRM5Glutamate receptor, metabotropic 511Rare Single Gene Mutation, Genetic Association, Functional45
GRM7Glutamate receptor, metabotropic 73Rare Single Gene Mutation, Genetic Association413
GSTM1glutathione S-transferase M11Genetic Association43
GTF2Igeneral transcription factor IIi7Rare Single Gene Mutation, Genetic Association45
GUCY1A2guanylate cyclase 1 soluble subunit alpha 211Rare Single Gene Mutation, Genetic Association42
HDLBPhigh density lipoprotein binding protein2Rare Single Gene Mutation44
HLA-Amajor histocompatibility complex, class I, A6Genetic Association48
HLA-BMajor histocompatibility complex, class I, B6Genetic Association43
HLA-Gmajor histocompatibility complex, class I, G6Genetic Association43
HNRNPH2heterogeneous nuclear ribonucleoprotein H2XRare Single Gene Mutation45
HNRNPUheterogeneous nuclear ribonucleoprotein U1Rare Single Gene Mutation, Syndromic, Functional4S12
HOMER1Homer homolog 1 (Drosophila)5Rare Single Gene Mutation, Functional45
HRASv-Ha-ras Harvey rat sarcoma viral oncogene homolog11Rare Single Gene Mutation, Syndromic, Genetic Association411
HS3ST5heparan sulfate (glucosamine) 3-O-sulfotransferase 56Genetic Association47
HSD11B1hydroxysteroid (11-beta) dehydrogenase 11Syndromic48
HTR1B5-hydroxytryptamine (serotonin) receptor 1B6Rare Single Gene Mutation, Genetic Association46
HTR3A5-hydroxytryptamine (serotonin) receptor 3A11Rare Single Gene Mutation, Genetic Association, Functional47
HTR3C5-hydroxytryptamine (serotonin) receptor 3, family member C3Rare Single Gene Mutation, Genetic Association45
HYDINHYDIN, axonemal central pair apparatus protein16Rare Single Gene Mutation, Genetic Association43
ICA1islet cell autoantigen 1, 69kDa7Rare Single Gene Mutation45
GRIK3glutamate ionotropic receptor kainate type subunit 31Rare Single Gene Mutation, Genetic Association45
HLA-DRB1major histocompatibility complex, class II, DR beta 16Genetic Association49
IL1R2interleukin 1 receptor, type II2Rare Single Gene Mutation46
IL1RAPL1interleukin 1 receptor accessory protein-like 1XRare Single Gene Mutation420
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 Association412
INPP1inositol polyphosphate-1-phosphatase2Rare Single Gene Mutation, Genetic Association44
IQGAP3IQ motif containing GTPase activating protein 31Rare Single Gene Mutation42
IQSEC2IQ motif and Sec7 domain 2XRare Single Gene Mutation, Syndromic4S18
ITPR1inositol 1,4,5-trisphosphate receptor type 13Rare Single Gene Mutation48
JMJD1Cjumonji domain containing 1C10Rare Single Gene Mutation47
KANK1KN motif and ankyrin repeat domains 19Rare Single Gene Mutation47
KATNAL1katanin catalytic subunit A1 like 113Rare Single Gene Mutation, Functional42
KCND2potassium voltage-gated channel subfamily D member 27Rare Single Gene Mutation, Genetic Association45
KCND3potassium voltage-gated channel subfamily D member 31Rare Single Gene Mutation, Syndromic, Genetic Association48
KCNK7potassium two pore domain channel subfamily K member 711Rare Single Gene Mutation41
KCNMA1potassium large conductance calcium-activated channel, subfamily M, alpha member 110Rare Single Gene Mutation418
KCTD13Potassium channel tetramerisation domain containing 1316Rare Single Gene Mutation46
KDM4Blysine demethylase 4B19Rare Single Gene Mutation, Functional43
KHDRBS2KH domain containing, RNA binding, signal transduction associated 26Rare Single Gene Mutation42
KIF13BKinesin family member 13B8Rare Single Gene Mutation43
KIF5CKinesin family member 5C2Rare Single Gene Mutation, Syndromic4S7
KLF16Kruppel like factor 1619Rare Single Gene Mutation41
KRT26keratin 2617Rare Single Gene Mutation42
LAMA1Laminin, alpha 118Rare Single Gene Mutation, Genetic Association45
LEPLeptin7Rare Single Gene Mutation41
LILRB2leukocyte immunoglobulin like receptor B219Rare Single Gene Mutation42
LIN7Blin-7 homolog B, crumbs cell polarity complex component1941
LRBALPS-responsive vesicle trafficking, beach and anchor containing4Rare Single Gene Mutation45
LRFN2leucine rich repeat and fibronectin type III domain containing 26Rare Single Gene Mutation, Genetic Association, Functional44
LRFN5leucine rich repeat and fibronectin type III domain containing 514Rare Single Gene Mutation, Genetic Association46
LRP2LDL receptor related protein 22Rare Single Gene Mutation, Syndromic, Genetic Association411
KCNJ15potassium voltage-gated channel subfamily J member 1521Rare Single Gene Mutation42
KRR1KRR1, small subunit (SSU) processome component, homolog (yeast)12Genetic Association41
LMX1BLIM homeobox transcription factor 1 beta9Genetic Association41
LRRC1leucine rich repeat containing 16Genetic Association45
LRRC4leucine rich repeat containing 47Rare Single Gene Mutation, Functional43
LZTS2leucine zipper, putative tumor suppressor 210Genetic Association44
MAOAmonoamine oxidase AXRare Single Gene Mutation, Syndromic, Genetic Association, Functional415
MAOBmonoamine oxidase BXRare Single Gene Mutation, Genetic Association, Functional45
MAPK3mitogen-activated protein kinase 316Rare Single Gene Mutation, Functional44
MARK1microtubule affinity regulating kinase 11Rare Single Gene Mutation, Genetic Association410
MBD1methyl-CpG binding domain protein 118Rare Single Gene Mutation47
MBD3methyl-CpG binding domain protein 319Rare Single Gene Mutation44
MBD4methyl-CpG binding domain protein 43Rare Single Gene Mutation46
MBD6Methyl-CpG binding domain protein 612Rare Single Gene Mutation41
MCM4minichromosome maintenance complex component 48Rare Single Gene Mutation42
MCM6minichromosome maintenance complex component 62Rare Single Gene Mutation42
MCPH1microcephalin 18Rare Single Gene Mutation415
MDGA2MAM domain containing glycosylphosphatidylinositol anchor 214Rare Single Gene Mutation, Genetic Association47
MEF2Cmyocyte enhancer factor 2C5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional4S28
MEGF10multiple EGF like domains 105Rare Single Gene Mutation, Genetic Association45
MEGF11multiple EGF like domains 1115Rare Single Gene Mutation44
MIB1Mindbomb E3 ubiquitin protein ligase 118Rare Single Gene Mutation45
MKL2MKL/myocardin-like 216Rare Single Gene Mutation, Genetic Association410
MPP6membrane palmitoylated protein 67Rare Single Gene Mutation43
MSANTD2Myb/SANT DNA binding domain containing 211Rare Single Gene Mutation41
MSR1macrophage scavenger receptor 18Rare Single Gene Mutation42
MTF1metal-regulatory transcription factor 11Syndromic, Genetic Association44
MTHFRmethylenetetrahydrofolate reductase (NAD(P)H)1Rare Single Gene Mutation, Syndromic, Genetic Association415
MUC12mucin 12, cell surface associated7Rare Single Gene Mutation42
MUC4mucin 4, cell surface associated3Rare Single Gene Mutation45
MYH4Myosin, heavy chain 4, skeletal muscle17Rare Single Gene Mutation43
MYO16myosin XVI13Rare Single Gene Mutation, Genetic Association47
MYO1Emyosin IE15Rare Single Gene Mutation42
MYO5Cmyosin VC15Rare Single Gene Mutation42
MNTMAX network transcriptional repressor17Genetic Association41
NAALADL2N-acetylated alpha-linked acidic dipeptidase-like 23Genetic Association41
NACC1nucleus accumbens associated 119Rare Single Gene Mutation, Syndromic4S3
NBEAneurobeachin13Rare Single Gene Mutation48
NCKAP5NCK-associated protein 52Rare Single Gene Mutation41
NCOR1nuclear receptor corepressor 117Rare Single Gene Mutation43
NDUFA5NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa7Genetic Association43
NEO1Neogenin 11541
NFIAnuclear factor I/A1Rare Single Gene Mutation48
NIPA1non imprinted in Prader-Willi/Angelman syndrome 115Rare Single Gene Mutation45
NIPA2non imprinted in Prader-Willi/Angelman syndrome 215Rare Single Gene Mutation42
NLGN2Neuroligin 217Rare Single Gene Mutation, Functional48
NR1D1nuclear receptor subfamily 1 group D member 117Rare Single Gene Mutation43
NR2F1nuclear receptor subfamily 2 group F member 15Rare Single Gene Mutation, Syndromic4S10
NR4A2nuclear receptor subfamily 4 group A member 22Rare Single Gene Mutation45
NRCAMneuronal cell adhesion molecule7Rare Single Gene Mutation, Genetic Association45
NRP2neuropilin 22Rare Single Gene Mutation, Genetic Association48
NRXN2neurexin 211Rare Single Gene Mutation, Genetic Association49
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
NUP133nucleoporin 133kDa1Rare Single Gene Mutation44
NXPH1neurexophilin 17Rare Single Gene Mutation45
ODF3L2outer dense fiber of sperm tails 3-like 219Rare Single Gene Mutation41
OFD1OFD1, centriole and centriolar satellite proteinXRare Single Gene Mutation42
OR1C1olfactory receptor, family 1, subfamily C, member 11Rare Single Gene Mutation42
OR2T10olfactory receptor family 2 subfamily T member 101Rare Single Gene Mutation43
NSMCE3NSE3 homolog, SMC5-SMC6 complex component15Functional43
PCDH10protocadherin 104Rare Single Gene Mutation48
PCDH11Xprotocadherin 11 X-linkedXRare Single Gene Mutation42
PCDH15protocadherin related 1510Rare Single Gene Mutation, Genetic Association44
PATJPATJ, crumbs cell polarity complex component1Rare Single Gene Mutation42
NLGN4Yneuroligin 4, Y-linkedYGenetic Association43
NOTCH2NLnotch 2 N-terminal like1Functional41
NPAS2neuronal PAS domain protein 22Genetic Association44
OR2M4Olfactory receptor, family 2, subfamily M, member 41Genetic Association41
OTX1Orthodenticle homeobox 12Genetic Association43
OXToxytocin/neurophysin I prepropeptide20Genetic Association44
PCDH9protocadherin 913Rare Single Gene Mutation, Genetic Association47
PCDHA1Protocadherin alpha 15Rare Single Gene Mutation, Genetic Association43
PCDHA10Protocadherin alpha 105Rare Single Gene Mutation, Genetic Association43
PCDHA11Protocadherin alpha 115Rare Single Gene Mutation, Genetic Association44
PCDHA12Protocadherin alpha 125Rare Single Gene Mutation, Genetic Association43
PCDHA13Protocadherin alpha 135Rare Single Gene Mutation, Genetic Association44
PCDHA2Protocadherin alpha 25Rare Single Gene Mutation, Genetic Association44
PCDHA3Protocadherin alpha 35Rare Single Gene Mutation, Genetic Association43
PCDHA4Protocadherin alpha 45Rare Single Gene Mutation, Genetic Association44
PCDHA5Protocadherin alpha 55Rare Single Gene Mutation, Genetic Association45
PCDHA6Protocadherin alpha 65Rare Single Gene Mutation, Genetic Association43
PCDHA7Protocadherin alpha 75Rare Single Gene Mutation, Genetic Association43
PCDHA8Protocadherin alpha 85Rare Single Gene Mutation, Genetic Association44
PCDHA9Protocadherin alpha 95Rare Single Gene Mutation, Genetic Association44
PCDHAC1Protocadherin alpha subfamily C, 15Genetic Association42
PCDHAC2Protocadherin alpha subfamily C, 25Genetic Association43
PDCD1programmed cell death 12Rare Single Gene Mutation43
PER1period homolog 1 (Drosophila)17Rare Single Gene Mutation, Genetic Association46
PIK3CGphosphoinositide-3-kinase, catalytic, gamma polypeptide7Genetic Association44
PITX1paired-like homeodomain 15Rare Single Gene Mutation, Genetic Association46
PLAURPlasminogen activator, urokinase receptor19Genetic Association41
PLNphospholamban6Rare Single Gene Mutation44
PLXNA3plexin A3XRare Single Gene Mutation42
PNPLA7patatin like phospholipase domain containing 79Rare Single Gene Mutation43
POLA2DNA polymerase alpha 2, accessory subunit11Rare Single Gene Mutation42
POMT1protein O-mannosyltransferase 19Rare Single Gene Mutation42
POT1Protection of telomeres 1 homolog (S. pombe)7Rare Single Gene Mutation41
PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D17Rare Single Gene Mutation, Syndromic4S5
PPP1R1BProtein phosphatase 1, regulatory (inhibitor) subunit 1B17Genetic Association41
PPP2R1Bprotein phosphatase 2 regulatory subunit A, beta11Rare Single Gene Mutation44
PPP2R5DProtein phosphatase 2, regulatory subunit B', delta6Rare Single Gene Mutation, Syndromic4S13
PRKDCprotein kinase, DNA-activated, catalytic polypeptide8Rare Single Gene Mutation, Syndromic, Functional44
PRPF39pre-mRNA processing factor 3914Rare Single Gene Mutation43
PRUNE2prune homolog 29Rare Single Gene Mutation, Syndromic46
PSD3pleckstrin and Sec7 domain containing 38Rare Single Gene Mutation, Genetic Association45
PTBP2polypyrimidine tract binding protein 21Rare Single Gene Mutation43
PTGS2prostaglandin-endoperoxide synthase 21Genetic Association, Functional46
PTPN11protein tyrosine phosphatase, non-receptor type 1112Rare Single Gene Mutation, Syndromic4S13
PTPRBprotein tyrosine phosphatase, receptor type B12Rare Single Gene Mutation, Genetic Association43
QRICH1glutamine rich 13Rare Single Gene Mutation42
RAB11FIP5RAB11 family interacting protein 52Rare Single Gene Mutation44
RAB39BRAB39B, member RAS oncogene familyXRare Single Gene Mutation410
PDE1Cphosphodiesterase 1C7Rare Single Gene Mutation, Genetic Association43
PEX7peroxisomal biogenesis factor 76Rare Single Gene Mutation, Genetic Association43
PPFIA1PTPRF interacting protein alpha 111Rare Single Gene Mutation43
PTPRTprotein tyrosine phosphatase, receptor type, T20Rare Single Gene Mutation, Functional48
PXDNperoxidasin2Rare Single Gene Mutation44
RAD21L1RAD21 cohesin complex component like 120Rare Single Gene Mutation42
RAPGEF4Rap guanine nucleotide exchange factor (GEF) 42Rare Single Gene Mutation415
REEP3receptor accessory protein 310Rare Single Gene Mutation43
REREArginine-glutamic acid dipeptide (RE) repeats1Rare Single Gene Mutation, Syndromic, Genetic Association4S6
RFX3regulatory factor X39Rare Single Gene Mutation45
RGS7regulator of G-protein signaling 71Rare Single Gene Mutation46
RIMS3regulating synaptic membrane exocytosis 31Rare Single Gene Mutation44
RNF135Ring finger protein 13517Syndromic, Genetic Association4S2
RNF38ring finger protein 389Rare Single Gene Mutation42
RPL10ribosomal protein L10XRare Single Gene Mutation, Syndromic413
RPS6KA2ribosomal protein S6 kinase, 90kDa, polypeptide 26Rare Single Gene Mutation43
RPS6KA3Ribosomal protein S6 kinase, 90kDa, polypeptide 3XRare Single Gene Mutation, Syndromic4S9
SATB2SATB homeobox 22Rare Single Gene Mutation, Syndromic, Genetic Association4S22
RP11-1407O15.217Rare Single Gene Mutation41
SCFD2sec1 family domain containing 24Rare Single Gene Mutation42
SCN4ASodium channel, voltage gated, type IV alpha subunit17Rare Single Gene Mutation43
RASSF5Ras association domain family member 51Rare Single Gene Mutation, Genetic Association42
RHOXF1Rhox homeobox family, member 1XGenetic Association43
RIT2Ras-like without CAAX 218Genetic Association43
SASH1SAM and SH3 domain containing 16Rare Single Gene Mutation42
SCP2sterol carrier protein 21Rare Single Gene Mutation42
SDC2syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated, fibroglycan )8Rare Single Gene Mutation, Genetic Association44
SETD1BSET domain containing 1B12Rare Single Gene Mutation, Syndromic4S6
SETDB1SET domain, bifurcated 11Rare Single Gene Mutation43
SETDB2SET domain, bifurcated 213Rare Single Gene Mutation, Syndromic42
SEZ6L2SEZ6L2 seizure related 6 homolog (mouse)-like 216Rare Single Gene Mutation, Genetic Association46
SGSM3Small G protein signaling modulator 322Rare Single Gene Mutation44
SERPINE1serpin family E member 17Genetic Association42
SIN3ASIN3 transcription regulator family member A15Rare Single Gene Mutation, Syndromic4S6
SLC1A1solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 19Rare Single Gene Mutation, Genetic Association411
SLC22A9solute carrier family 22 member 911Rare Single Gene Mutation43
SLC25A39solute carrier family 25 member 3917Rare Single Gene Mutation43
SLC27A4Solute carrier family 27 (fatty acid transporter), member 49Rare Single Gene Mutation41
SLC29A4solute carrier family 29 member 47Rare Single Gene Mutation41
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, Syndromic410
SLC7A7solute carrier family 7 member 714Rare Single Gene Mutation42
SLC9A9solute carrier family 9 (sodium/hydrogen exchanger), member 93Rare Single Gene Mutation, Genetic Association, Functional411
SLCO1B3Solute carrier organic anion transporter family, member 1B312Rare Single Gene Mutation42
SMC3structural maintenance of chromosomes 310Rare Single Gene Mutation, Syndromic4S7
SMG6SMG6, nonsense mediated mRNA decay factor17Rare Single Gene Mutation42
SNAP25Synaptosomal-associated protein, 25kDa20Rare Single Gene Mutation, Genetic Association46
SND1staphylococcal nuclease and tudor domain containing 17Rare Single Gene Mutation, Genetic Association48
SNTG2syntrophin gamma 22Rare Single Gene Mutation45
SLC22A15Solute carrier family 22, member 151Genetic Association41
SLC25A12solute carrier family 25 (mitochondrial carrier, Aralar), member 122Rare Single Gene Mutation, Genetic Association, Functional420
SLC25A27solute carrier family 25 member 276Genetic Association41
SPP2secreted phosphoprotein 22Rare Single Gene Mutation43
SRGAP3SLIT-ROBO Rho GTPase activating protein 33Rare Single Gene Mutation44
SSPOSCO-spondin7Rare Single Gene Mutation43
SSRP1structure specific recognition protein 111Rare Single Gene Mutation42
ST7suppression of tumorigenicity 77Rare Single Gene Mutation44
STX1ASyntaxin 1A (brain)7Rare Single Gene Mutation, Genetic Association46
SOD1superoxide dismutase 121Genetic Association, Functional42
STK39serine threonine kinase 39 (STE20/SPS1 homolog, yeast)2Genetic Association45
STYK1Serine/threonine/tyrosine kinase 112Genetic Association41
SYAP1Synapse associated protein 1XRare Single Gene Mutation42
SYN1Synapsin 1XRare Single Gene Mutation, Functional418
SYN2Synapsin II3Rare Single Gene Mutation, Genetic Association, Functional46
SYNE1spectrin repeat containing, nuclear envelope 16Rare Single Gene Mutation, Genetic Association4S15
SYNJ1synaptojanin 121Rare Single Gene Mutation41
TAF1CTATA-box binding protein associated factor, RNA polymerase I subunit C16Rare Single Gene Mutation, Genetic Association42
TBC1D5TBC1 domain family, member 53Rare Single Gene Mutation, Genetic Association47
TBX1T-box 122Syndromic41
TECTAtectorin alpha11Rare Single Gene Mutation45
TERB2telomere repeat binding bouquet formation protein 215Rare Single Gene Mutation41
THBS1Thrombospondin 115Rare Single Gene Mutation, Genetic Association42
TLK2tousled-like kinase 217Rare Single Gene Mutation, Syndromic4S10
TM4SF19transmembrane 4 L six family member 193Rare Single Gene Mutation43
TOP3BTopoisomerase (DNA) III beta22Rare Single Gene Mutation, Genetic Association, Functional46
TSHZ3teashirt zinc finger homeobox 319Rare Single Gene Mutation42
TSPAN17tetraspanin 175Rare Single Gene Mutation43
TSPAN7tetraspanin 7XRare Single Gene Mutation47
TTNtitin2Rare Single Gene Mutation, Syndromic4S17
TUBGCP5tubulin, gamma complex associated protein 515Rare Single Gene Mutation44
TSPOAP1TSPO associated protein 117Rare Single Gene Mutation45
SYT17synaptotagmin XVII16Genetic Association42
TBL1Xtransducin (beta)-like 1X-linkedXGenetic Association41
TDO2tryptophan 2,3-dioxygenase4Genetic Association44
THRAthyroid hormone receptor alpha17Rare Single Gene Mutation, Functional43
TPOThyroid peroxidase2Genetic Association41
TRAF7TNF receptor associated factor 716Rare Single Gene Mutation, Syndromic4S3
TRIM33Tripartite motif containing 331Genetic Association41
TTC25tetratricopeptide repeat domain 2517Genetic Association41
UBE2Hubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)7Genetic Association42
UNC13Aunc-13 homolog A19Rare Single Gene Mutation, Syndromic4S5
UNC80unc-80 homolog, NALCN activator2Rare Single Gene Mutation44
USH2Ausherin1Rare Single Gene Mutation43
USP9Yubiquitin specific peptidase 9, Y-linkedYRare Single Gene Mutation, Genetic Association42
VASH1vasohibin 114Genetic Association44
VSIG4V-set and immunoglobulin domain containing 4XRare Single Gene Mutation42
WNK3WNK lysine deficient protein kinase 3XRare Single Gene Mutation46
WNT1Wingless-type MMTV integration site family, member 112Genetic Association43
XPO1Exportin 1 (CRM1 homolog, yeast)2Rare Single Gene Mutation, Genetic Association45
YEATS2YEATS domain containing 23Genetic Association41
YTHDC2YTH domain containing 25Rare Single Gene Mutation, Genetic Association45
YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon17Rare Single Gene Mutation45
ZBTB16Zinc finger and BTB domain containing 1611Genetic Association41
ZNF18zinc finger protein 1817Rare Single Gene Mutation41
ZNF292zinc finger protein 2926Rare Single Gene Mutation43
ZNF385BZinc finger protein 385B2Genetic Association42
ZNF462Zinc finger protein 4629Rare Single Gene Mutation, Syndromic4S7
ZNF517Zinc finger protein 5178Rare Single Gene Mutation42
ZNF548zinc finger protein 54819Rare Single Gene Mutation42
ZNF559Zinc finger protein 55919Rare Single Gene Mutation43
ZNF626zinc finger protein 62619Rare Single Gene Mutation42
ZNF713Zinc finger protein 7137Rare Single Gene Mutation41
ZNF774Zinc finger protein 77415Rare Single Gene Mutation42
ZNF827Zinc finger protein 8274Genetic Association41
ZWILCHzwilchkinetochore protein15Rare Single Gene Mutation43
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