Human Gene Module 1079 total genes

Database updated on April 23, 2019

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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 Mutation45
ABCA7ATP-binding cassette, sub-family A (ABC1), member 719Rare Single Gene Mutation42
ACEangiotensin I converting enzyme17Genetic Association42
ACHEAcetylcholinesterase (Yt blood group)7Rare Single Gene Mutation34
ADAadenosine deaminase20Genetic Association36
ADARB1Adenosine deaminase, RNA-specific, B121Functional52
ADCY3adenylate cyclase 32Rare Single Gene Mutation32
ADCY5Adenylate cyclase 53Rare Single Gene Mutation46
ADKadenosine kinase10Rare Single Gene Mutation42
ADNPActivity-dependent neuroprotector homeobox20Rare Single Gene Mutation1S32
ADORA3Adenosine A3 receptor1Rare Single Gene Mutation42
ADSLadenylosuccinate lyase22SyndromicS6
AFF2AF4/FMR2 family, member 2XRare Single Gene Mutation415
AFF4AF4/FMR2 family, member 45Rare Single Gene Mutation67
AGAP1ArfGAP with GTPase domain, ankyrin repeat and PH domain 12Rare Single Gene Mutation48
AGAP2ArfGAP with GTPase domain, ankyrin repeat and PH domain 212Rare Single Gene Mutation34
AGBL4ATP/GTP binding protein-like 41Rare Single Gene Mutation43
AGMOalkylglycerol monooxygenase7Rare Single Gene Mutation45
AGO1argonaute 1, RISC catalytic component1Rare Single Gene Mutation36
AGTR2angiotensin II receptor, type 2XRare Single Gene Mutation43
AHDC1AT-hook DNA binding motif containing 11Rare Single Gene Mutation3S11
AHI1Abelson helper integration site 16Genetic AssociationS18
AKAP9A kinase (PRKA) anchor protein 97Rare Single Gene Mutation34
ALDH1A3aldehyde dehydrogenase 1 family member A315SyndromicS5
ALDH5A1aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase )6SyndromicS10
AMPD1Adenosine monophosphate deaminase 11Rare Single Gene Mutation33
AMTAminomethyltransferase3Rare Single Gene Mutation31
ANK2Ankyrin 2, neuronal4Rare Single Gene Mutation113
ANK3ankyrin 310Rare Single Gene Mutation325
ANKRD11ankyrin repeat domain 1116Rare Single Gene Mutation2S40
ANXA1Annexin A19Rare Single Gene Mutation32
AP1S2adaptor related protein complex 1 sigma 2 subunitXSyndromicS5
APBA2amyloid beta (A4) precursor protein-binding, family A, member 215Rare Single Gene Mutation46
APBB1amyloid beta precursor protein binding family B member 111Rare Single Gene Mutation33
APCadenomatosis polyposis coli5Functional59
APH1AAPH1A gamma secretase subunit1Rare Single Gene Mutation32
ARHGAP15Rho GTPase activating protein 152Rare Single Gene Mutation67
ARHGAP24Rho GTPase activating protein 244Rare Single Gene Mutation51
ARHGAP32Rho GTPase activating protein 3211Rare Single Gene Mutation47
ARHGAP33Rho GTPase activating protein 3319Functional52
ARHGAP5Rho GTPase activating protein 514Rare Single Gene Mutation44
ARHGEF10Rho guanine nucleotide exchange factor 108Rare Single Gene Mutation43
ARHGEF9Cdc42 guanine nucleotide exchange factor (GEF) 9XRare Single Gene Mutation4S8
ARID1BAT-rich interaction domain 1B6Rare Single Gene Mutation1S38
ARNT2aryl-hydrocarbon receptor nuclear translocator 215Genetic Association411
ARXaristaless related homeoboxXRare Single Gene MutationS15
ABAT4-aminobutyrate aminotransferase16Genetic Association44
ACTN4actinin alpha 419Rare Single Gene Mutation44
ACY1aminoacylase 13Syndromic5
ADAMTS18ADAM metallopeptidase with thrombospondin type 1 motif 1816Rare Single Gene Mutation54
ADORA2Aadenosine A2a receptor22Genetic Association47
ADRB2adrenergic, beta-2-, receptor, surface5Genetic Association410
AGO3argonaute RISC catalytic component 31Rare Single Gene Mutation44
AGO4argonaute RISC catalytic component 41Rare Single Gene Mutation32
ALG6ALG6, alpha-1,3-glucosyltransferase1SyndromicS1
ALOX5AParachidonate 5-lipoxygenase-activating protein3Functional54
AMBRA1autophagy and beclin 1 regulator 111Functional53
ANKS1Bankyrin repeat and sterile alpha motif domain containing 1B12Rare Single Gene Mutation41
APPAmyloid beta (A4) precursor protein21Functional53
ARHGAP11BRho GTPase activating protein 11B15Rare Single Gene Mutation41
ASAP2ArfGAP with SH3 domain, ankyrin repeat and PH domain 22Rare Single Gene Mutation33
ASH1LAsh1 (absent, small, or homeotic)-like (Drosophila)1Rare Single Gene Mutation113
ASMTacetylserotonin O-methyltransferaseX,YRare Single Gene Mutation49
ASPMabnormal spindle microtubule assembly1Rare Single Gene Mutation35
ARandrogen receptorXGenetic Association46
ASS1argininosuccinate synthetase9Functional53
ASTN2astrotactin 29Rare Single Gene Mutation313
ASXL3Additional sex combs like 3 (Drosophila)18Rare Single Gene Mutation1S18
ATG7Autophagy related 73Functional52
ATP10AProbable phospholipid-transporting ATPase VA15Rare Single Gene Mutation38
ATP1A3ATPase Na+/K+ transporting subunit alpha 319Rare Single Gene Mutation4S13
ATP2B2ATPase, Ca++ transporting, plasma membrane 23Rare Single Gene Mutation39
ATP6V0A2ATPase H+ transporting V0 subunit a212Rare Single Gene Mutation42
ATP8A1ATPase phospholipid transporting 8A14Functional52
ATRNL1Attractin-like 110Rare Single Gene Mutation51
ATRXalpha thalassemia/mental retardation syndrome X-linkedXRare Single Gene Mutation417
ATXN7Ataxin 73Rare Single Gene Mutation51
AUTS2autism susceptibility candidate 27Rare Single Gene Mutation332
AVPArginine vasopressin20Functional54
AVPR1Aarginine vasopressin receptor 1A12Genetic Association321
AVPR1Barginine vasopressin receptor 1B1Genetic Association48
AZGP1alpha-2-glycoprotein 1, zinc-binding7Rare Single Gene Mutation42
BAIAP2BAI1-associated protein 217Rare Single Gene Mutation510
BAZ2Bbromodomain adjacent to zinc finger domain 2B2Rare Single Gene Mutation23
BBS4Bardet-Biedl syndrome 415Rare Single Gene Mutation43
BCKDKBranched chain ketoacid dehydrogenase kinase16Rare Single Gene Mutation23
BCL11AB-cell CLL/lymphoma 11A (zinc finger protein)2Rare Single Gene Mutation2S16
BCL2B-cell CLL/lymphoma 218Functional610
BDNFBrain-derived neurotrophic factor11Functional511
BIRC6Baculoviral IAP repeat containing 62Rare Single Gene Mutation48
BRAFv-raf murine sarcoma viral oncogene homolog B7SyndromicS7
BRCA2breast cancer 2, early onset13Rare Single Gene Mutation44
BRD4bromodomain containing 419Rare Single Gene Mutation44
BRINP1BMP/retinoic acid inducible neural specific 19Functional52
BST1bone marrow stromal cell antigen 14Genetic Association45
BTAF1RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae)10Rare Single Gene Mutation35
C12orf57Chromosome 12 open reading frame 5712SyndromicS10
C15orf62chromosome 15 open reading frame 6215Rare Single Gene Mutation42
C3orf58chromosome 3 open reading frame 583Rare Single Gene Mutation43
C4Bcomplement component 4B6Genetic Association46
CA6carbonic anhydrase VI1Rare Single Gene Mutation46
CACNA1ACalcium channel, voltage-dependent, P/Q type, alpha 1A subunit19SyndromicS12
CACNA1Ccalcium channel, voltage-dependent, L type, alpha 1C subunit12SyndromicS41
BICDL1BICD family like cargo adaptor 112Genetic Association42
ATP1A1ATPase Na+/K+ transporting subunit alpha 11Rare Single Gene Mutation4S3
BCAS1breast carcinoma amplified sequence 120Rare Single Gene Mutation42
BIN1bridging integrator 12Rare Single Gene Mutation3
CACNA1Bcalcium voltage-gated channel subunit alpha1 B9Rare Single Gene Mutation47
CACNA1Dcalcium channel, voltage-dependent, L type, alpha 1D3Rare Single Gene Mutation218
CACNA1Ecalcium voltage-gated channel subunit alpha1 E1Rare Single Gene Mutation39
CACNA1Fcalcium channel, voltage-dependent, alpha 1FXGenetic Association47
CACNA1Gcalcium channel, voltage-dependent, T type, alpha 1G subunit17Genetic Association419
CACNA1Hcalcium channel, voltage-dependent, alpha 1H subunit16Rare Single Gene Mutation223
CACNA1ICalcium channel, voltage-dependent, T type, alpha 1I subunit22Genetic Association46
CACNA2D3Calcium channel, voltage-dependent, alpha 2/delta subunit 33Rare Single Gene Mutation26
CACNB2Calcium channel, voltage-dependent, beta 2 subunit10Rare Single Gene Mutation34
CADM1cell adhesion molecule 111Rare Single Gene Mutation49
CADPS2Ca2+-dependent activator protein for secretion 27Rare Single Gene Mutation412
CAMK2Acalcium/calmodulin dependent protein kinase II alpha5Rare Single Gene Mutation4S7
CAMK2Bcalcium/calmodulin dependent protein kinase II beta7SyndromicS4
CAMSAP2calmodulin regulated spectrin-associated protein family, member 21Rare Single Gene Mutation51
CAMTA1calmodulin binding transcription activator 11Rare Single Gene Mutation57
CAPN12Calpain 1219Rare Single Gene Mutation45
CAPRIN1Cell cycle associated protein 111Rare Single Gene Mutation33
CARD11caspase recruitment domain family member 117Rare Single Gene Mutation41
CASC4cancer susceptibility candidate 415Rare Single Gene Mutation44
CASKcalcium/calmodulin dependent serine protein kinaseXRare Single Gene Mutation412
CC2D1ACoiled-coil and C2 domain containing 1A19Rare Single Gene Mutation310
CCDC88CCoiled-coil domain containing 88C14Rare Single Gene Mutation46
CCDC91coiled-coil domain containing 9112Rare Single Gene Mutation43
CCT4Chaperonin containing TCP1, subunit 4 (delta)2Rare Single Gene Mutation33
CD276CD276molecule15Rare Single Gene Mutation41
CD38CD38 molecule4Genetic Association47
CD44CD44 molecule (Indian blood group)11Functional54
CDC42BPBCDC42 binding protein kinase beta (DMPK-like)14Rare Single Gene Mutation36
CDH10cadherin 10, type 2 (T2-cadherin)5Genetic Association49
CDH11cadherin 1116Rare Single Gene Mutation43
CDH8cadherin 8, type 216Rare Single Gene Mutation49
CDH9cadherin 9, type 2 (T1-cadherin)5Genetic Association46
CDK13cyclin dependent kinase 137SyndromicS7
CDKL5cyclin-dependent kinase-like 5XRare Single Gene MutationS33
CDKN1Bcyclin dependent kinase inhibitor 1B12Rare Single Gene Mutation51
CECR2CECR2, histone acetyl-lysine reader22Rare Single Gene Mutation42
CELF4CUGBP, Elav-like family member 418Rare Single Gene Mutation39
CELF6CUGBP, Elav-like family member 615Genetic Association42
CEP135centrosomal protein 1354Rare Single Gene Mutation36
CEP290Centrosomal protein 290kDa12Rare Single Gene Mutation4S7
CEP41testis specific, 147Rare Single Gene Mutation25
CGNL1Cingulin-like 115Rare Single Gene Mutation33
CHD1chromodomain helicase DNA binding protein 15Rare Single Gene Mutation4S4
CHD2Chromodomain helicase DNA binding protein 215Rare Single Gene Mutation1S30
CHD5chromodomain helicase DNA binding protein 51Functional54
CHD7chromodomain helicase DNA binding protein 78SyndromicS25
CHD8chromodomain helicase DNA binding protein 814Rare Single Gene Mutation1S39
CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 17Rare Single Gene Mutation43
CASZ1castor zinc finger 11Rare Single Gene Mutation34
CBScystathionine beta-synthase21Functional67
CCNG1cyclin G15Rare Single Gene Mutation31
CCNKcyclin K14SyndromicS2
CDH13cadherin 1316Rare Single Gene Mutation32
CHD3chromodomain helicase DNA binding protein 317Rare Single Gene Mutation4S4
CHKBCholine kinase beta22SyndromicS4
CHMP1Acharged multivesicular body protein 1A16Rare Single Gene Mutation35
CHRM3cholinergic receptor muscarinic 31Rare Single Gene Mutation45
CHRNA7cholinergic receptor, nicotinic, alpha 715313
CHRNB3cholinergic receptor nicotinic beta 3 subunit8Rare Single Gene Mutation41
CHST5carbohydrate sulfotransferase 516Rare Single Gene Mutation65
CIB2Calcium and integrin binding family member 215Rare Single Gene Mutation31
CICcapicua transcriptional repressor19Rare Single Gene Mutation2S5
CLASP1cytoplasmic linker associated protein 12Rare Single Gene Mutation33
CLN8Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)8Rare Single Gene Mutation43
CLSTN2calsyntenin 23Functional54
CLSTN3Calsyntenin 312Functional53
CLTCL1clathrin, heavy chain-like 122Rare Single Gene Mutation45
CMIPc-Maf inducing protein16Rare Single Gene Mutation46
CNGB3cyclic nucleotide gated channel beta 38Rare Single Gene Mutation42
CNKSR2connector enhancer of kinase suppressor of Ras 2XRare Single Gene Mutation3S4
CNOT3CCR4-NOT transcription complex subunit 319Rare Single Gene Mutation2S5
CNR1cannabinoid receptor 1 (brain)6Rare Single Gene Mutation37
CNR2Cannabinoid receptor 2 (macrophage)1Functional54
CNTN4contactin 43Rare Single Gene Mutation220
CNTN5Contactin 511Rare Single Gene Mutation39
CNTN6Contactin 63Rare Single Gene Mutation312
CNTNAP2contactin associated protein-like 27Rare Single Gene Mutation2S64
CNTNAP4Contactin associated protein-like 416Rare Single Gene Mutation311
CNTNAP5contactin associated protein-like 52Rare Single Gene Mutation411
COL28A1collagen type XXVIII alpha 1 chain7Rare Single Gene Mutation42
CPT2carnitine palmitoyltransferase 21Rare Single Gene Mutation42
CREBBPCREB binding protein16Genetic Association521
CSMD1CUB and Sushi multiple domains 18Rare Single Gene Mutation413
CSNK1Dcasein kinase 1, delta1761
CSNK1Ecasein kinase 1 epsilon22Rare Single Gene Mutation45
CTCFCCCTC-binding factor16Rare Single Gene Mutation312
CTNNA3catenin (cadherin-associated protein), alpha 310Genetic Association414
CTNNB1catenin beta 13Rare Single Gene Mutation320
CTNND2Catenin (cadherin-associated protein), delta 25Rare Single Gene Mutation25
CTTNBP2cortactin binding protein 27Rare Single Gene Mutation37
CUL3Cullin 32Rare Single Gene Mutation116
CUL7Cullin 76Rare Single Gene Mutation34
CUX1cut like homeobox 17Rare Single Gene Mutation25
CNTN3contactin 33Rare Single Gene Mutation45
CNTNAP3contactin associated protein-like 39Rare Single Gene Mutation44
CUX2cut like homeobox 212Rare Single Gene Mutation4S7
CX3CR1Chemokine (C-X3-C motif) receptor 13Rare Single Gene Mutation43
CXCR3chemokine (C-X-C motif) receptor 3XRare Single Gene Mutation58
CYFIP1cytoplasmic FMR1 interacting protein 115316
CYLC2cylicin, basic protein of sperm head cytoskeleton 29Rare Single Gene Mutation43
CYP27A1cytochrome P450 family 27 subfamily A member 12SyndromicS2
DAB1disabled homolog 1 (Drosophila)1Functional57
DAGLAdiacylglycerol lipase alpha11Rare Single Gene Mutation44
DAPK1death-associated protein kinase 19Functional55
DAPP1Dual adaptor of phosphotyrosine and 3-phosphoinositides4Rare Single Gene Mutation31
DCTN5dynactin 516Rare Single Gene Mutation53
DDX3XDEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linkedXRare Single Gene Mutation2S14
DDX53DEAD (Asp-Glu-Ala-Asp) box polypeptide 53X43
DEAF1DEAF1 transcription factor11Rare Single Gene Mutation2S15
DENRdensity-regulated protein12Rare Single Gene Mutation32
DEPDC5DEP domain containing 522SyndromicS9
CADM2Cell adhesion molecule 23Genetic Association43
CADPScalcium dependent secretion activator3Genetic Association42
CAMK4Calcium/calmodulin-dependent protein kinase IV5Genetic Association41
CBLN1cerebellin 1 precursor16Functional56
CD99L2CD99 molecule like 2XGenetic Association41
CDH22cadherin-like 2220Genetic Association44
CPEB4cytoplasmic polyadenylation element binding protein 45Functional31
CRHR2corticotropin releasing hormone receptor 27Functional53
CTNNA2catenin alpha 22SyndromicS1
CYP11B1cytochrome P450, family 11, subfamily B, polypeptide 18Genetic Association44
DCUN1D1DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)3Functional53
DCXdoublecortinXRare Single Gene Mutation69
DDCdopa decarboxylase7Genetic Association42
DDX11DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1112Functional53
DGKKdiacylglycerol kinase kappaXFunctional51
DGKZdiacylglycerol kinase zeta11Rare Single Gene Mutation52
DHCR77-dehydrocholesterol reductase11SyndromicS15
DHX30DExH-box helicase 303SyndromicS1
DIAPH3Diaphanous-related formin 313Rare Single Gene Mutation511
DIP2ADIP2 disco-interacting protein 2 homolog A (Drosophila)21Rare Single Gene Mutation35
DIP2Cdisco interacting protein 2 homolog C10Rare Single Gene Mutation22
DISC1disrupted in schizophrenia 11Rare Single Gene Mutation334
DIXDC1DIX domain containing 111Rare Single Gene Mutation44
DLG1discs large MAGUK scaffold protein 13Rare Single Gene Mutation43
DLG4discs large MAGUK scaffold protein 417Functional510
DLGAP1DLG associated protein 118Rare Single Gene Mutation37
DLGAP2discs, large (Drosophila) homolog-associated protein 28Rare Single Gene Mutation412
DLX6distal-less homeobox 67Genetic Association49
DMDdystrophin (muscular dystrophy, Duchenne and Becker types)XSyndromicS35
DMPKdystrophia myotonica-protein kinase19SyndromicS7
DMXL2Dmx-like 215Rare Single Gene Mutation46
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 containing2Genetic Association42
DNM1LDynamin 1-like12Functional53
DNMT3ADNA (cytosine-5-)-methyltransferase 3 alpha2Rare Single Gene Mutation3S11
DOCK1Dedicator of cytokinesis 110Rare Single Gene Mutation42
DOCK10Dedicator of cytokinesis 102Rare Single Gene Mutation51
DOCK4Dedicator of cytokinesis 47Genetic Association48
DOCK8dedicator of cytokinesis 89Rare Single Gene Mutation38
DPP10Dipeptidyl-peptidase 102Rare Single Gene Mutation311
DPP4Dipeptidyl-peptidase 42Rare Single Gene Mutation46
DPP6dipeptidyl-peptidase 67Rare Single Gene Mutation423
DPYDdihydropyrimidine dehydrogenase1Rare Single Gene Mutation411
DPYSL2dihydropyrimidinase like 28Rare Single Gene Mutation312
DPYSL3dihydropyrimidinase like 35Rare Single Gene Mutation42
DRD2Dopamine receptor D211Genetic Association46
DRD3dopamine receptor D33Genetic Association48
DSCAMDown syndrome cell adhesion molecule21Rare Single Gene Mutation18
DSTDystonin6Rare Single Gene Mutation46
DUSP15dual specificity phosphatase 1520Rare Single Gene Mutation43
DUSP22dual specificity phosphatase 226Rare Single Gene Mutation61
DVL3Dishevelled segment polarity protein 33Rare Single Gene Mutation43
DYDC1DPY30 domain containing 11041
DYDC2DPY30 domain containing 21041
DYNC1H1dynein cytoplasmic 1 heavy chain 114Rare Single Gene Mutation313
DYRK1ADual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A21Rare Single Gene Mutation1S35
EBF3early B-cell factor 310SyndromicS7
EEF1A2Eukaryotic translation elongation factor 1 alpha 220SyndromicS7
EFR3AEFR3 homolog A (S. cerevisiae)8Rare Single Gene Mutation35
EHMT1Euchromatic histone-lysine N-methyltransferase 19Rare Single Gene Mutation3S21
DLGAP3DLG associated protein 31Functional49
DLX1distal-less homeobox 12Genetic Association58
DLX2distal-less homeobox 22Genetic Association411
DLX3distal-less homeobox 317Rare Single Gene Mutation32
DNAJC19DnaJ heat shock protein family (Hsp40) member C193Functional51
DOLKdolichol kinase9Syndromic1
DRD1Dopamine receptor D15Genetic Association44
DVL1Dishevelled segment polarity protein 11Functional53
EGR2early growth response 2 (Krox-20 homolog, Drosophila)10Functional54
EIF3Geukaryotic translation initiation factor 3 subunit G19Rare Single Gene Mutation43
EIF4Eeukaryotic translation initiation factor 4E4Rare Single Gene Mutation412
EIF4EBP2Eukaryotic translation initiation factor 4E binding protein 210Functional51
ELAVL2ELAV like neuron-specific RNA binding protein 29Rare Single Gene Mutation45
ELAVL3ELAV like neuron-specific RNA binding protein 319Rare Single Gene Mutation33
ELP4Elongator acetyltransferase complex subunit 411Rare Single Gene Mutation36
EML1echinoderm microtubule associated protein like 114Rare Single Gene Mutation52
EN2engrailed homolog 27Genetic Association423
EP300E1A binding protein p30022Rare Single Gene Mutation4S16
EP400E1A binding protein p40012Rare Single Gene Mutation36
EPC2Enhancer of polycomb homolog 2 (Drosophila)244
EMSYEMSY, BRCA2 interacting transcriptional repressor11Rare Single Gene Mutation33
EPHA6EPH receptor A63Rare Single Gene Mutation56
EPHB2EPH receptor B21Rare Single Gene Mutation44
EPHB6EPH receptor B67Rare Single Gene Mutation55
EPPK1epiplakin 18Rare Single Gene Mutation43
EPS8epidermal growth factor receptor pathway substrate 812Functional51
ERBB4v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian)2Rare Single Gene Mutation515
ERGERG, ETS transcription factor21Genetic Association41
ERMNermin2Rare Single Gene Mutation41
ESR1estrogen receptor 16Genetic Association510
ESR2estrogen receptor 2 (ER beta)14Genetic Association48
ESRRBestrogen-related receptor beta14Genetic Association47
ETFBElectron-transfer-flavoprotein, beta polypeptide19Rare Single Gene Mutation33
EXOC6Bexocyst complex component 6B2Rare Single Gene Mutation43
EXT1Exostosin 18Rare Single Gene Mutation46
F13A1coagulation factor XIII, A1 polypeptide6Functional56
FABP3Fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)1Functional52
FABP5fatty acid binding protein 5 (psoriasis-associated)8Genetic Association46
FABP7fatty acid binding protein 7, brain6Rare Single Gene Mutation67
FAM19A2family with sequence similarity 19 member A2, C-C motif chemokine like12Functional51
FAM19A3family with sequence similarity 19 member A3, C-C motif chemokine like1Functional52
FAM47Afamily with sequence similarity 47 member AXRare Single Gene Mutation41
FAM92BFamily with sequence similarity 92, member B16Rare Single Gene Mutation33
FAN1FANCD2/FANCI-associated nuclease 115Rare Single Gene Mutation41
FAT1FAT atypical cadherin 14Rare Single Gene Mutation44
FBN1Fibrillin 115Rare Single Gene Mutation39
FBXO33F-box protein 3314Genetic Association43
ERBINerbb2 interacting protein5Rare Single Gene Mutation25
FBXO40F-box protein 40344
FCRL6Fc receptor like 61Rare Single Gene Mutation44
FEZF2FEZ family zinc finger 23Genetic Association48
FGAFibrinogen alpha chain4Genetic Association41
FGD1FYVE, RhoGEF and PH domain containing 1XRare Single Gene Mutation53
FGFBP3fibroblast growth factor binding protein 310Rare Single Gene Mutation51
FHITfragile histidine triad gene3Rare Single Gene Mutation412
FLT1fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular perme ability factor receptor)13Functional54
FMR1fragile X mental retardation 1XSyndromicS40
FOLH1folate hydrolase 111Functional52
FOXG1Forkhead box G114SyndromicS24
FOXP1forkhead box P13Rare Single Gene Mutation2S43
FOXP2forkhead box P27Rare Single Gene Mutation340
FRKfyn-related kinase6Genetic Association43
DLGAP4DLG associated protein 420Functional52
ELOVL2ELOVL fatty acid elongase 26Genetic Association41
EXOC3exocyst complex component 35Rare Single Gene Mutation41
EXOC5exocyst complex component 514Rare Single Gene Mutation42
EXOC6exocyst complex component 610Rare Single Gene Mutation41
FAM135Bfamily with sequence similarity 135 member B8Rare Single Gene Mutation2
FBXO11F-box protein 112Rare Single Gene Mutation4S5
FBXO15F-box protein 1518Rare Single Gene Mutation3
FERFERtyrosine kinase5Genetic Association1
FGFR2fibroblast growth factor receptor 210Functional51
FRMPD4FERM and PDZ domain containing 4XSyndromicS5
GABBR2gamma-aminobutyric acid type B receptor subunit 29Rare Single Gene Mutation4S10
GABRA1Gamma-aminobutyric acid (GABA) A receptor, alpha 15Functional56
GABRA3Gamma-aminobutyric acid (GABA) A receptor, alpha 3XSyndromicS3
GABRA4gamma-aminobutyric acid (GABA) A receptor, alpha 44Genetic Association46
GABRA5gamma-aminobutyric acid type A receptor alpha5 subunit15Functional59
GABRB1gamma-aminobutyric acid (GABA) A receptor, beta 14Rare Single Gene Mutation56
GABRB3gamma-aminobutyric acid (GABA) A receptor, beta 315Rare Single Gene Mutation237
GABRQGamma-aminobutyric acid (GABA) A receptor, thetaXRare Single Gene Mutation51
GAD1Glutamate decarboxylase 1 (brain, 67kDa)2Functional55
GADD45BGrowth arrest and DNA-damage-inducible, beta19Functional54
GALNT13polypeptide N-acetylgalactosaminyltransferase 132Rare Single Gene Mutation44
GALNT14polypeptide N-acetylgalactosaminyltransferase 142Genetic Association44
GATMGlycine amidinotransferase (L-arginine:glycine amidinotransferase)15SyndromicS2
GDAguanine deaminase9Genetic Association42
GGNBP2gametogenetin binding protein 217Rare Single Gene Mutation32
GIGYF1GRB10 interacting GYF protein 17Rare Single Gene Mutation34
GIGYF2GRB10 interacting GYF protein 22Rare Single Gene Mutation27
GLIS1GLIS family zinc finger 11Genetic Association42
GLO1glyoxalase I6Genetic Association49
GLRA2glycine receptor, alpha 2XRare Single Gene Mutation414
GNA14Guanine nucleotide binding protein (G protein), alpha 149Rare Single Gene Mutation61
GNASGNAS complex locus20Rare Single Gene Mutation48
GNB1Lguanine nucleotide binding protein (G protein), beta polypeptide 1-like22Rare Single Gene Mutation42
GPC4glypican 4XRare Single Gene Mutation32
GPC6glypican 613Rare Single Gene Mutation48
GPHNGephyrin14Rare Single Gene Mutation38
GPR139G protein-coupled receptor 13916Rare Single Gene Mutation55
GPR37G protein-coupled receptor 377Rare Single Gene Mutation42
GPR85G protein-coupled receptor 857Rare Single Gene Mutation44
GRIA1glutamate ionotropic receptor AMPA type subunit 15Rare Single Gene Mutation25
GRID1Glutamate receptor, ionotropic, delta 110Rare Single Gene Mutation36
GRID2glutamate receptor, ionotropic, delta 24Rare Single Gene Mutation49
GRIK2glutamate ionotropic receptor kainate type subunit 26Genetic Association318
GRIK4Glutamate receptor, ionotropic, kainate 411Rare Single Gene Mutation43
GRIK5Glutamate receptor, ionotropic, kainate 519Rare Single Gene Mutation37
GRIN1Glutamate receptor, ionotropic, N-methyl D-aspartate 19Rare Single Gene Mutation314
GRIN2Aglutamate receptor, ionotropic, N-methyl D-aspartate 2A16Genetic Association338
GRIN2Bglutamate receptor, inotropic, N-methyl D-apartate 2B12Rare Single Gene Mutation148
GRIP1glutamate receptor interacting protein 112Rare Single Gene Mutation212
GRM5Glutamate receptor, metabotropic 511Rare Single Gene Mutation46
GRM7Glutamate receptor, metabotropic 73Rare Single Gene Mutation413
GRM8glutamate receptor, metabotropic 87Genetic Association67
GRPRGastrin-releasing peptide receptorXRare Single Gene Mutation58
GSK3BGlycogen synthase kinase 3 beta3Functional54
GUCY1A2guanylate cyclase 1 soluble subunit alpha 211Genetic Association42
HCN1Hyperpolarization activated cyclic nucleotide-gated potassium channel 15SyndromicS8
HDAC3histone deacetylase 35Functional56
HDAC4histone deacetylase 42SyndromicS12
HDChistidine decarboxylase15Functional56
HDLBPhigh density lipoprotein binding protein2Rare Single Gene Mutation44
HECTD4HECT domain E3 ubiquitin protein ligase 412Rare Single Gene Mutation33
HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 22Rare Single Gene Mutation37
HEPACAMhepatic and glial cell adhesion molecule11SyndromicS10
HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 215SyndromicS6
HIVEP3human immunodeficiency virus type I enhancer binding protein 31Rare Single Gene Mutation35
HNRNPH2heterogeneous nuclear ribonucleoprotein H2XRare Single Gene Mutation45
HNRNPUheterogeneous nuclear ribonucleoprotein U1Rare Single Gene Mutation4S12
HOMER1Homer homolog 1 (Drosophila)5Rare Single Gene Mutation45
GABRG3gamma-aminobutyric acid type A receptor gamma3 subunit15Rare Single Gene Mutation39
GALNT8polypeptide N-acetylgalactosaminyltransferase 812Rare Single Gene Mutation31
GAP43Growth associated protein 433Functional51
GAS2Growth arrest-specific 211Genetic Association41
GPD2glycerol-3-phosphate dehydrogenase 22Rare Single Gene Mutation44
GPX1glutathione peroxidase 13Genetic Association45
GRID2IPGrid2 interacting protein7Rare Single Gene Mutation43
GRIK3glutamate ionotropic receptor kainate type subunit 31Rare Single Gene Mutation45
GRM1glutamate metabotropic receptor 16Genetic Association6
GRM4Glutamate receptor, metabotropic 46Functional51
GSNgelsolin9Rare Single Gene Mutation61
GSTM1glutathione S-transferase M11Genetic Association43
GTF2Igeneral transcription factor IIi7Genetic Association45
H2AFZH2A histone family member Z4Functional53
HCFC1host cell factor C1XSyndromic7
HDAC6histone deacetylase 6XRare Single Gene Mutation56
HLA-Amajor histocompatibility complex, class I, A6Genetic Association49
HLA-BMajor histocompatibility complex, class I, B6Genetic Association44
HLA-Gmajor histocompatibility complex, class I, G6Genetic Association44
HMGN1high mobility group nucleosome binding domain 121Genetic Association31
HOXA1homeobox A17Genetic AssociationS15
HOXB1homeobox B117Functional58
HRASv-Ha-ras Harvey rat sarcoma viral oncogene homolog11Genetic Association411
HS3ST5heparan sulfate (glucosamine) 3-O-sulfotransferase 56Genetic Association47
HSD11B1hydroxysteroid (11-beta) dehydrogenase 11Genetic Association48
HTR1B5-hydroxytryptamine (serotonin) receptor 1B6Genetic Association46
HTR2A5-hydroxytryptamine (serotonin) receptor 2A13Functional59
HTR3A5-hydroxytryptamine (serotonin) receptor 3A11Genetic Association47
HTR3C5-hydroxytryptamine (serotonin) receptor 3, family member C3Genetic Association45
HTR75-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)10Rare Single Gene Mutation65
HUWE1HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligaseXSyndromicS9
HYDINHYDIN, axonemal central pair apparatus protein16Rare Single Gene Mutation43
ICA1islet cell autoantigen 17Rare Single Gene Mutation38
IFNGinterferon gamma12Functional513
IFNGR1interferon gamma receptor 16Functional51
IL17AInterleukin 17A6Functional51
IL17RAinterleukin 17 receptor A22Functional53
IL1R2interleukin 1 receptor, type II2Rare Single Gene Mutation46
IL1RAPL1interleukin 1 receptor accessory protein-like 1XRare Single Gene Mutation422
IL1RAPL2interleukin 1 receptor accessory protein-like 2XGenetic Association42
IL6interleukin 67Functional56
ILF2Interleukin enhancer binding factor 21Rare Single Gene Mutation24
IMMP2LIMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)7Rare Single Gene Mutation413
INPP1inositol polyphosphate-1-phosphatase2Genetic Association44
INTS6Integrator complex subunit 613Rare Single Gene Mutation24
IQGAP3IQ motif containing GTPase activating protein 31Rare Single Gene Mutation43
IQSEC2IQ motif and Sec7 domain 2XRare Single Gene Mutation4S21
IRF2BPLInterferon regulatory factor 2 binding protein-like14Rare Single Gene Mutation2S5
ITGA4integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)2Genetic Association55
ITGB3integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)17Genetic Association314
ITGB7integrin, beta 712Rare Single Gene Mutation54
ITPR1inositol 1,4,5-trisphosphate receptor type 13Rare Single Gene Mutation49
JAKMIP1Janus kinase and microtubule interacting protein 14Functional58
JARID2jumonji and AT-rich interaction domain containing 26Rare Single Gene Mutation311
JMJD1Cjumonji domain containing 1C10Rare Single Gene Mutation48
KANK1KN motif and ankyrin repeat domains 19Rare Single Gene Mutation48
KAT2BK(lysine) acetyltransferase 2B3Rare Single Gene Mutation26
KAT6AK(lysine) acetyltransferase 6A8Rare Single Gene Mutation3S10
KATNAL1katanin catalytic subunit A1 like 113Rare Single Gene Mutation42
KATNAL2Katanin p60 subunit A-like 218Rare Single Gene Mutation19
HDAC8histone deacetylase 8XSyndromicS5
HLA-DRB1major histocompatibility complex, class II, DR beta 16Genetic Association410
IL16interleukin 1615Rare Single Gene Mutation2
INTS1integrator complex subunit 17SyndromicS2
KCNB1potassium voltage-gated channel subfamily B member 120SyndromicS4
KCNC1potassium voltage-gated channel subfamily C member 111Rare Single Gene Mutation44
KCND2potassium voltage-gated channel subfamily D member 27Rare Single Gene Mutation46
KCND3potassium voltage-gated channel subfamily D member 31Rare Single Gene Mutation48
KCNJ10potassium voltage-gated channel subfamily J member 101Rare Single Gene Mutation311
KCNJ2Potassium inwardly-rectifying channel, subfamily J, member 217Rare Single Gene Mutation53
KCNK7potassium two pore domain channel subfamily K member 711Rare Single Gene Mutation41
KCNMA1potassium large conductance calcium-activated channel, subfamily M, alpha member 110Genetic Association418
KCNQ2potassium voltage-gated channel subfamily Q member 220Rare Single Gene Mutation319
KCNQ3potassium voltage-gated channel subfamily Q member 38Rare Single Gene Mutation37
KCNT1potassium sodium-activated channel subfamily T member 19Functional510
KCTD13Potassium channel tetramerisation domain containing 1316Rare Single Gene Mutation46
KDM4Blysine demethylase 4B19Rare Single Gene Mutation43
KDM5BLysine (K)-specific demethylase 5B1Rare Single Gene Mutation211
KDM5Clysine demethylase 5CXRare Single Gene Mutation321
KDM6Alysine demethylase 6AXRare Single Gene Mutation26
KDM6BLysine (K)-specific demethylase 6B17Rare Single Gene Mutation38
KHDRBS2KH domain containing, RNA binding, signal transduction associated 26Rare Single Gene Mutation42
KIAA1586KIAA15866Rare Single Gene Mutation33
KIF13BKinesin family member 13B8Rare Single Gene Mutation43
KIF5CKinesin family member 5C2Rare Single Gene Mutation4S7
KIRREL3Kin of IRRE like 3 (Drosophila)11Rare Single Gene Mutation315
KLC2Kinesin light chain 211Rare Single Gene Mutation52
KLF16Kruppel like factor 1619Rare Single Gene Mutation41
KMT2ALysine (K)-specific methyltransferase 2A11Rare Single Gene Mutation1S17
KMT2CLysine (K)-specific methyltransferase 2C7Rare Single Gene Mutation2S15
KMT2ELysine (K)-specific methyltransferase 2E7Rare Single Gene Mutation36
KPTNkaptin, actin binding protein19SyndromicS4
KRT26keratin 2617Rare Single Gene Mutation42
LAMA1Laminin, alpha 118Genetic Association45
KMT5Blysine methyltransferase 5B11Rare Single Gene Mutation110
LAMB1laminin, beta 17Genetic Association36
LAMC3laminin, gamma 39Rare Single Gene Mutation59
LEO1LEO1 homolog, Paf1/RNA polymerase II complex component15Rare Single Gene Mutation23
LEPLeptin7Rare Single Gene Mutation41
LILRB2leukocyte immunoglobulin like receptor B219Rare Single Gene Mutation42
LIN7Blin-7 homolog B, crumbs cell polarity complex component19Rare Single Gene Mutation41
LRBALPS-responsive vesicle trafficking, beach and anchor containing4Rare Single Gene Mutation45
LRFN2leucine rich repeat and fibronectin type III domain containing 26Rare Single Gene Mutation44
LRFN5leucine rich repeat and fibronectin type III domain containing 514Rare Single Gene Mutation46
LRP2LDL receptor related protein 22Rare Single Gene Mutation411
LZTR1Leucine-zipper-like transcription regulator 122Rare Single Gene Mutation36
MACROD2MACRO domain containing 220Genetic Association219
MAGEL2MAGE-like 215Rare Single Gene Mutation2S15
MAOAmonoamine oxidase AX415
MAP2microtubule-associated protein 22Rare Single Gene Mutation55
MAPK1Mitogen-activated protein kinase 122Functional52
MAPK3mitogen-activated protein kinase 316Rare Single Gene Mutation44
MARK1microtubule affinity regulating kinase 11Genetic Association410
KCNJ12potassium voltage-gated channel subfamily J member 1217Rare Single Gene Mutation1
KCNJ15potassium voltage-gated channel subfamily J member 1521Rare Single Gene Mutation42
KCNS3potassium voltage-gated channel modifier subfamily S member 32Rare Single Gene Mutation33
KDM4Clysine demethylase 4C9Rare Single Gene Mutation31
KHDRBS3KH RNA binding domain containing, signal transduction associated 38Functional52
KIF14kinesin family member 141Rare Single Gene Mutation34
KIF21Bkinesin family member 21B1Functional53
KITKIT proto-oncogene receptor tyrosine kinase4Rare Single Gene Mutation51
KRR1KRR1, small subunit (SSU) processome component, homolog (yeast)12Genetic Association41
LATlinker for activation of T-cells1652
LMX1BLIM homeobox transcription factor 1 beta9Genetic Association31
LPLlipoprotein lipase8Rare Single Gene Mutation1
LRP2BPLRP2 binding protein4Rare Single Gene Mutation1
LRPPRCleucine rich pentatricopeptide repeat containing2Functional53
LRRC1leucine rich repeat containing 16Genetic Association45
LRRC4leucine rich repeat containing 47Rare Single Gene Mutation43
LRRC7Leucine rich repeat containing 71Rare Single Gene Mutation3
LZTS2leucine zipper, putative tumor suppressor 210Genetic Association44
MAGED1MAGE family member D1XFunctional51
MALmal, T-cell differentiation protein2Functional52
MAOBmonoamine oxidase BX45
MAPK12mitogen-activated protein kinase 1222Rare Single Gene Mutation1
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
MBD5Methyl-CpG binding domain protein 52Rare Single Gene Mutation3S30
LNPKlunapark, ER junction formation factor2SyndromicS1
MAPK8IP2Mitogen-activated protein kinase 8 interacting protein 222Functional51
MBD6Methyl-CpG binding domain protein 612Rare Single Gene Mutation41
MBOAT7membrane bound O-acyltransferase domain containing 719Rare Single Gene Mutation2S2
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 Mutation47
MECP2Methyl CpG binding protein 2XRare Single Gene Mutation2S72
MED12mediator complex subunit 12XRare Single Gene Mutation620
MED13mediator complex subunit 1317Rare Single Gene Mutation2S4
MED13LMediator complex subunit 13-like12Rare Single Gene Mutation2S26
MEF2Cmyocyte enhancer factor 2C5Rare Single Gene Mutation4S31
MEGF10multiple EGF like domains 105Genetic Association45
MEGF11multiple EGF like domains 1115Rare Single Gene Mutation44
METmet proto-oncogene (hepatocyte growth factor receptor)7Genetic Association237
MFRPMembrane frizzled-related protein11Rare Single Gene Mutation36
MIB1Mindbomb E3 ubiquitin protein ligase 118Rare Single Gene Mutation45
MKL2MKL/myocardin-like 216Genetic Association410
MNTMAX network transcriptional repressor17Genetic Association41
MOCOSMolybdenum cofactor sulfurase18Functional52
MPP6membrane palmitoylated protein 67Rare Single Gene Mutation43
MSANTD2Myb/SANT DNA binding domain containing 211Rare Single Gene Mutation41
MSNP1ASMoesinpseudogene 1, antisense5Genetic Association212
MSR1macrophage scavenger receptor 18Rare Single Gene Mutation42
MTF1metal-regulatory transcription factor 11Genetic Association44
MTHFRmethylenetetrahydrofolate reductase (NAD(P)H)1Genetic Association415
MTORMechanistic target of rapamycin (serine/threonine kinase)1Rare Single Gene Mutation3S15
MTR5-methyltetrahydrofolate-homocysteine methyltransferase1Functional55
MTX2Metaxin 22Functional51
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 XVI13Genetic Association47
MYO1Amyosin IA12Rare Single Gene Mutation57
MYO1Emyosin IE15Rare Single Gene Mutation43
MYO5Amyosin VA15Rare Single Gene Mutation34
MYO5Cmyosin VC15Rare Single Gene Mutation42
MYO9BMyosin IXB19Rare Single Gene Mutation33
KMOkynurenine 3-monooxygenase1Functional51
MC4RMelanocortin 4 receptor18Functional54
MCCMCC, WNT signaling pathway regulator555
MEIS2Meis homeobox 215SyndromicS5
MYH10myosin heavy chain 1017Rare Single Gene Mutation35
MYOZ1myozenin 110Rare Single Gene Mutation51
MYT1LMyelin transcription factor 1-like2Rare Single Gene Mutation116
NAA15N(alpha)-acetyltransferase 15, NatA auxiliary subunit4Rare Single Gene Mutation1S10
NAALADL2N-acetylated alpha-linked acidic dipeptidase-like 23Genetic Association41
NACC1nucleus accumbens associated 119Rare Single Gene Mutation4S3
NAV2neuron navigator 211Rare Single Gene Mutation39
NBEAneurobeachin13Rare Single Gene Mutation4S16
NCKAP1NCK-associated protein 12Rare Single Gene Mutation27
NCKAP5NCK-associated protein 52Rare Single Gene Mutation41
NCKAP5LNCK-associated protein 5-like12Rare Single Gene Mutation52
NCOR1nuclear receptor corepressor 117Rare Single Gene Mutation26
NEFLNeurofilament, light polypeptide8Functional52
NEO1Neogenin 115Rare Single Gene Mutation41
NF1neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)17SyndromicS24
MIR137microRNA 1371310
NEXMIFneurite extension and migration factorXRare Single Gene Mutation319
NFIAnuclear factor I/A1Rare Single Gene Mutation49
NFIXnuclear factor I/X (CCAAT-binding transcription factor)19SyndromicS7
NINLNinein-like20Rare Single Gene Mutation34
NIPA1non imprinted in Prader-Willi/Angelman syndrome 11545
NIPA2non imprinted in Prader-Willi/Angelman syndrome 21542
NIPBLNipped-B homolog (Drosophila)5SyndromicS10
NLGN1neuroligin 13Rare Single Gene Mutation317
NLGN2Neuroligin 217Rare Single Gene Mutation48
NLGN3neuroligin 3XRare Single Gene Mutation232
NLGN4Xneuroligin 4, X-linkedXRare Single Gene Mutation330
NOS1APnitric oxide synthase 1 (neuronal) adaptor protein1Rare Single Gene Mutation56
NOS2nitric oxide synthase 217Genetic Association57
NR1D1nuclear receptor subfamily 1 group D member 117Rare Single Gene Mutation43
NR2F1nuclear receptor subfamily 2 group F member 15Rare Single Gene Mutation4S10
NR3C2Nuclear receptor subfamily 3, group C, member 24Rare Single Gene Mutation34
NR4A2nuclear receptor subfamily 4 group A member 22Rare Single Gene Mutation46
NRCAMneuronal cell adhesion molecule7Genetic Association45
NRP2neuropilin 22Genetic Association48
NRXN1neurexin 12Rare Single Gene Mutation276
NRXN2neurexin 211Rare Single Gene Mutation410
NRXN3neurexin 314Rare Single Gene Mutation317
NSD1nuclear receptor binding SET domain protein 15SyndromicS14
NTNG1netrin G11Rare Single Gene Mutation4S8
NTRK1neurotrophic tyrosine kinase, receptor, type 11Genetic Association48
NTRK2neurotrophic receptor tyrosine kinase 29SyndromicS3
NTRK3neurotrophic tyrosine kinase, receptor, type 315Genetic Association413
NUAK1NUAK family, SNF1-like kinase, 112Rare Single Gene Mutation36
NUP133nucleoporin 133kDa1Rare Single Gene Mutation44
NXPH1neurexophilin 17Rare Single Gene Mutation45
OCRLoculocerebrorenal syndrome of LoweXSyndromicS5
ODF3L2outer dense fiber of sperm tails 3-like 219Rare Single Gene Mutation41
OFD1OFD1, centriole and centriolar satellite proteinXRare Single Gene Mutation42
OPHN1oligophrenin 1XRare Single Gene Mutation314
OR1C1olfactory receptor, family 1, subfamily C, member 11Rare Single Gene Mutation42
OR2T10olfactory receptor family 2 subfamily T member 101Rare Single Gene Mutation43
OR52M1Olfactory receptor, family 52, subfamily M, member 111Rare Single Gene Mutation32
NSMCE3NSE3 homolog, SMC5-SMC6 complex component1543
NDUFA5NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa7Genetic Association43
NEGR1neuronal growth regulator 11Genetic Association45
NELL1neural EGFL like 111Genetic Association2
NFE2L3nuclear factor, erythroid 2 like 37Rare Single Gene Mutation33
NFIBnuclear factor I B9Rare Single Gene Mutation4S3
NLGN4Yneuroligin 4, Y-linkedYGenetic Association43
NOS1nitric oxide synthase 112Rare Single Gene Mutation2
NOTCH2NLnotch 2 N-terminal like141
NPAS2neuronal PAS domain protein 22Genetic Association44
NR1H2nuclear receptor subfamily 1 group H member 219Functional51
NRG1Neuregulin 18Functional54
NUDCD2NudC domain containing 25Rare Single Gene Mutation32
NXF5nuclear RNA export factor 5X4
OGTO-linked N-acetylglucosamine (GlcNAc) transferaseXFunctional54
OPRM1opioid receptor, mu 16Functional54
OR2M4Olfactory receptor, family 2, subfamily M, member 41Genetic Association41
OTUD7AOTU deubiquitinase 7A15Rare Single Gene Mutation34
OTX1Orthodenticle homeobox 12Genetic Association43
OXToxytocin/neurophysin I prepropeptide20Genetic Association44
OXTRoxytocin receptor3Genetic Association344
P2RX4Purinergic receptor P2X, ligand-gated ion channel, 412Functional51
P2RX5Purinergic receptor P2X, ligand gated ion channel, 517Rare Single Gene Mutation32
P4HA2Prolyl 4-hydroxylase, alpha polypeptide II5Rare Single Gene Mutation34
PACS1phosphofurin acidic cluster sorting protein 111SyndromicS6
PACS2phosphofurin acidic cluster sorting protein 214SyndromicS2
PAFAH1B1Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)17Functional52
PAHPhenylalanine hydroxylase12Rare Single Gene Mutation32
PARD3BPar-3 partitioning defective 3 homolog B (C. elegans)2Rare Single Gene Mutation37
PAX5Paired box 59Rare Single Gene Mutation35
PAX6Paired box 611SyndromicS7
PCCApropionyl-CoA carboxylase alpha subunit13SyndromicS9
PCCBpropionyl-CoA carboxylase beta subunit3SyndromicS8
PCDH10protocadherin 104Rare Single Gene Mutation48
PCDH11Xprotocadherin 11 X-linkedXRare Single Gene Mutation42
PCDH15protocadherin related 1510Rare Single Gene Mutation44
PCDH19protocadherin 19XSyndromicS31
PCDH8protocadherin 813Rare Single Gene Mutation61
PCDH9protocadherin 913Rare Single Gene Mutation47
PCDHA1Protocadherin alpha 15Genetic Association43
PCDHA10Protocadherin alpha 105Genetic Association44
PCDHA11Protocadherin alpha 115Genetic Association44
PCDHA12Protocadherin alpha 125Genetic Association43
PCDHA13Protocadherin alpha 135Genetic Association44
PCDHA2Protocadherin alpha 25Genetic Association44
PCDHA3Protocadherin alpha 35Genetic Association43
PCDHA4Protocadherin alpha 45Genetic Association44
PCDHA5Protocadherin alpha 55Genetic Association45
PATJPATJ, crumbs cell polarity complex component1Rare Single Gene Mutation42
PAK2p21 (RAC1) activated kinase 23Rare Single Gene Mutation34
PAPOLGpoly(A) polymerase gamma2Rare Single Gene Mutation43
PBX1PBX homeobox 11Rare Single Gene Mutation44
PCDHA6Protocadherin alpha 65Genetic Association43
PCDHA7Protocadherin alpha 75Genetic Association43
PCDHA8Protocadherin alpha 85Genetic Association44
PCDHA9Protocadherin alpha 95Genetic Association44
PCDHGA11protocadherin gamma subfamily A, 115Rare Single Gene Mutation51
PDCD1programmed cell death 12Rare Single Gene Mutation43
PDE4Bphosphodiesterase 4B, cAMP-specific1Functional55
PDZD4PDZ domain containing 4XRare Single Gene Mutation54
PECRperoxisomal trans-2-enoyl-CoA reductase2Rare Single Gene Mutation52
PER1period homolog 1 (Drosophila)17Genetic Association46
PER2period circadian clock 22Rare Single Gene Mutation32
PGLYRP2peptidoglycan recognition protein 219Functional53
PHF2PHD finger protein 29Rare Single Gene Mutation35
PHF3PHD finger protein 36Rare Single Gene Mutation22
PHIPpleckstrin homology domain interacting protein6Rare Single Gene Mutation3S10
PHRF1PHD and ring finger domains 111Rare Single Gene Mutation34
PIK3R2phosphoinositide-3-kinase regulatory subunit 219SyndromicS4
PINX1PIN2/TERF1 interacting, telomerase inhibitor 18Rare Single Gene Mutation55
PITX1paired-like homeodomain 15Genetic Association46
PLCB1phospholipase C, beta 1 (phosphoinositide-specific)20Rare Single Gene Mutation37
PLCD1phospholipase C, delta 13Rare Single Gene Mutation59
PLNphospholamban6Rare Single Gene Mutation44
PLXNA3plexin A3XRare Single Gene Mutation42
PLXNA4Plexin A47Rare Single Gene Mutation34
PLXNB1plexin B13Rare Single Gene Mutation33
PNPLA7patatin like phospholipase domain containing 79Rare Single Gene Mutation43
POGZPogo transposable element with ZNF domain1Rare Single Gene Mutation1S24
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
POU3F2POU class 3 homeobox 26Functional53
PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D17Rare Single Gene Mutation4S6
PPP1R3Fprotein phosphatase 1, regulatory (inhibitor) subunit 3FXRare Single Gene Mutation53
PPP2R1Bprotein phosphatase 2 regulatory subunit A, beta11Rare Single Gene Mutation45
PPP2R5DProtein phosphatase 2, regulatory subunit B', delta6Rare Single Gene Mutation4S13
PREX1Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 120Rare Single Gene Mutation31
PRICKLE1Prickle homolog 1 (Drosophila)12Rare Single Gene Mutation34
PRICKLE2prickle planar cell polarity protein 23Rare Single Gene Mutation33
PRKCBprotein kinase C beta16Genetic Association36
PRKD1Protein kinase D114SyndromicS4
PRKDCprotein kinase, DNA-activated, catalytic polypeptide8Rare Single Gene Mutation44
PRODHProline dehydrogenase (oxidase) 122Rare Single Gene Mutation3S6
PRPF39pre-mRNA processing factor 3914Rare Single Gene Mutation43
PRR12proline rich 1219SyndromicS2
PRUNE2prune homolog 29Rare Single Gene Mutation46
PSD3pleckstrin and Sec7 domain containing 38Rare Single Gene Mutation45
PSMD10proteasome (prosome, macropain) 26S subunit, non-ATPase, 10XRare Single Gene Mutation56
PSMD12proteasome 26S subunit, non-ATPase 1217SyndromicS2
PRKNparkin RBR E3 ubiquitin protein ligase6Rare Single Gene Mutation314
PTBP2polypyrimidine tract binding protein 21Rare Single Gene Mutation44
PTCHD1patched domain containing 1XRare Single Gene Mutation211
PTENphosphatase and tensin homolog (mutated in multiple advanced cancers 1)10Rare Single Gene Mutation1S55
PTGER3prostaglandin E receptor 31Rare Single Gene Mutation51
PTK7Protein tyrosine kinase 7 (inactive)6Rare Single Gene Mutation34
PTPN11protein tyrosine phosphatase, non-receptor type 1112Rare Single Gene Mutation4S13
PTPRBprotein tyrosine phosphatase, receptor type B12Genetic Association43
PYHIN1Pyrin and HIN domain family, member 11Rare Single Gene Mutation34
QRICH1glutamine rich 13Rare Single Gene Mutation43
RAB11FIP5RAB11 family interacting protein 52Rare Single Gene Mutation44
RAB2ARAB2A, member RAS oncogene family8Rare Single Gene Mutation38
RAB39BRAB39B, member RAS oncogene familyXRare Single Gene Mutation410
PDE1Cphosphodiesterase 1C7Genetic Association43
PDE4Aphosphodiesterase 4A19Rare Single Gene Mutation52
PDK2pyruvate dehydrogenase kinase 217Rare Single Gene Mutation44
PEX7peroxisomal biogenesis factor 76Genetic Association43
PHF21APHD finger protein 21A11Rare Single Gene Mutation4S6
PHF8PHD finger protein 8XSyndromicS7
POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)1SyndromicS4
PPFIA1PTPRF interacting protein alpha 111Rare Single Gene Mutation43
PPP2CAprotein phosphatase 2 catalytic subunit alpha5SyndromicS1
PRKCAprotein kinase C alpha17Rare Single Gene Mutation44
PRSS38serine protease 381Rare Single Gene Mutation3
PTPRCprotein tyrosine phosphatase, receptor type, C1Rare Single Gene Mutation48
PTPRTprotein tyrosine phosphatase, receptor type, T20Rare Single Gene Mutation49
PXDNperoxidasin2Rare Single Gene Mutation44
RAB19RAB19, member RAS oncogene family7Rare Single Gene Mutation62
RAB43RAB43, member RAS oncogene family3Rare Single Gene Mutation32
RAC1Rac family small GTPase 17Syndromic55
RAD21L1RAD21 cohesin complex component like 120Rare Single Gene Mutation42
RAI1retinoic acid induced 117Rare Single Gene Mutation3S21
RALARAS like proto-oncogene A7SyndromicS2
RALGAPBRal GTPase activating protein non-catalytic beta subunit20Rare Single Gene Mutation33
RANBP17RAN binding protein 175Rare Single Gene Mutation25
RAPGEF4Rap guanine nucleotide exchange factor (GEF) 42Rare Single Gene Mutation415
RASSF5Ras association domain family member 51Genetic Association42
RB1CC1RB1-inducible coiled-coil 18Rare Single Gene Mutation55
RBFOX1RNA binding protein, fox-1 homolog (C. elegans) 116Rare Single Gene Mutation333
RBM27RNA binding motif protein 275Rare Single Gene Mutation32
RBM8ARNA binding motif protein 8A1Rare Single Gene Mutation55
RBMS3RNA binding motif, single stranded interacting protein 33Rare Single Gene Mutation53
REEP3receptor accessory protein 310Rare Single Gene Mutation43
RELNReelin7Rare Single Gene Mutation149
REREArginine-glutamic acid dipeptide (RE) repeats1Rare Single Gene Mutation4S6
RFWD2ring finger and WD repeat domain 21Rare Single Gene Mutation59
RFX3regulatory factor X39Rare Single Gene Mutation45
RGS7regulator of G-protein signaling 71Rare Single Gene Mutation46
RHEBRas homolog, mTORC1 binding7SyndromicS1
RIMS1Regulating synaptic membrane exocytosis 16Rare Single Gene Mutation26
RIMS3regulating synaptic membrane exocytosis 31Rare Single Gene Mutation44
RLIMRing finger protein, LIM domain interactingXSyndromicS4
RNF135Ring finger protein 13517Rare Single Gene Mutation4S3
RNF38ring finger protein 389Rare Single Gene Mutation42
ROBO1roundabout, axon guidance receptor, homolog 1 (Drosophila)3Rare Single Gene Mutation511
ROBO2roundabout guidance receptor 23Rare Single Gene Mutation38
RORARAR-related orphan receptor A15SyndromicS18
RPL10ribosomal protein L10XRare Single Gene Mutation413
RPS6KA2ribosomal protein S6 kinase, 90kDa, polypeptide 26Rare Single Gene Mutation44
RPS6KA3Ribosomal protein S6 kinase, 90kDa, polypeptide 3XRare Single Gene Mutation4S9
SAE1SUMO1 activating enzyme subunit 119Rare Single Gene Mutation33
SATB2SATB homeobox 22Rare Single Gene Mutation4S23
SBF1SET binding factor 122Rare Single Gene Mutation38
SCFD2sec1 family domain containing 24Rare Single Gene Mutation42
SCN1Asodium channel, voltage-gated, type I, alpha subunit2Rare Single Gene Mutation3S51
RP11-1407O15.217Rare Single Gene Mutation41
PCDHAC1Protocadherin alpha subfamily C, 15Genetic Association42
PCDHAC2Protocadherin alpha subfamily C, 25Genetic Association43
PHBprohibitin17Genetic Association31
PIK3CGphosphoinositide-3-kinase, catalytic, gamma polypeptide7Genetic Association44
PLAURPlasminogen activator, urokinase receptor19Genetic Association41
PON1paraoxonase 17Genetic Association35
RNPS1RNA binding protein with serine rich domain 1161
SAMD11sterile alpha motif domain containing 111Rare Single Gene Mutation42
SASH1SAM and SH3 domain containing 16Rare Single Gene Mutation42
SCN2Asodium channel, voltage-gated, type II, alpha subunit2Rare Single Gene Mutation154
SCN4ASodium channel, voltage gated, type IV alpha subunit17Rare Single Gene Mutation43
SCN5Asodium voltage-gated channel alpha subunit 53Rare Single Gene Mutation2
SCN7Asodium voltage-gated channel alpha subunit 72Rare Single Gene Mutation3
SCN8Asodium channel, voltage gated, type VIII, alpha subunit12Rare Single Gene Mutation329
PLPPR4phospholipid phosphatase related 41Functional53
PPP1R1BProtein phosphatase 1, regulatory (inhibitor) subunit 1B17Genetic Association41
PTGS2prostaglandin-endoperoxide synthase 21Genetic Association46
RAD21RAD21cohesin complex component8SyndromicS3
RASD1ras related dexamethasone induced 117Functional51
RHOXF1Rhox homeobox family, member 1XGenetic Association43
RIT2Ras-like without CAAX 218Genetic Association43
RPP25ribonuclease P and MRP subunit p2515Functional51
SCN9Asodium voltage-gated channel alpha subunit 92Rare Single Gene Mutation25
SCP2sterol carrier protein 21Rare Single Gene Mutation42
SDC2syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated, fibroglycan )8Rare Single Gene Mutation44
SEMA5Asema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A5Genetic Association316
SETBP1SET binding protein 118Rare Single Gene Mutation312
SETD1BSET domain containing 1B12Rare Single Gene Mutation4S6
SETD2SET domain containing 23Rare Single Gene Mutation310
SETD5SET domain containing 53Rare Single Gene Mutation1S23
SETDB1SET domain, bifurcated 11Rare Single Gene Mutation43
SETDB2SET domain, bifurcated 213Rare Single Gene Mutation42
SEZ6L2SEZ6L2 seizure related 6 homolog (mouse)-like 21646
SGSHN-sulfoglucosamine sulfohydrolase17SyndromicS4
SGSM3Small G protein signaling modulator 322Rare Single Gene Mutation44
SH3KBP1SH3-domain kinase binding protein 1XRare Single Gene Mutation54
SHANK1SH3 and multiple ankyrin repeat domains 119Rare Single Gene Mutation36
SHANK2SH3 and multiple ankyrin repeat domains 211Rare Single Gene Mutation230
SHANK3SH3 and multiple ankyrin repeat domains 322Rare Single Gene Mutation1S71
SHOXshort stature homeoboxX,YRare Single Gene Mutation32
SIK1Salt-inducible kinase 121SyndromicS5
SIN3ASIN3 transcription regulator family member A15Rare Single Gene Mutation4S7
SLC12A5Solute carrier family 12 (potassium/chloride transporter), member 520Rare Single Gene Mutation35
SLC16A3solute carrier family 16, member 3 (monocarboxylic acid transporter 4)1762
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 19Genetic Association411
SLC1A2Solute carrier family 1 (glial high affinity glutamate transporter), member 211SyndromicS6
SLC22A9solute carrier family 22 member 911Rare Single Gene Mutation43
SLC25A24Solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 241Functional52
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
SLC30A5solute carrier family 305Rare Single Gene Mutation53
SLC38A10solute carrier family 38, member 1017Rare Single Gene Mutation31
SLC45A1solute carrier family 45 member 11SyndromicS2
SLC4A10solute carrier family 4, sodium bicarbonate transporter-like, member 102Rare Single Gene Mutation46
SLC6A1Solute carrier family 6 (neurotransmitter transporter), member 13Rare Single Gene Mutation2S19
SLC6A3Solute carrier family 6 (neurotransmitter transporter), member 35Rare Single Gene Mutation314
SLC6A4solute carrier family 6 (neurotransmitter transporter, serotonin), member 417Rare Single Gene Mutation426
SDK1sidekick cell adhesion molecule 17Rare Single Gene Mutation5
SETSETnuclear proto-oncogene9Rare Single Gene Mutation24
SF3B1splicing factor 3b subunit 12Rare Single Gene Mutation44
SLC24A2solute carrier family 24 member 29Rare Single Gene Mutation43
SLC35A3solute carrier family 35 member A31Rare Single Gene Mutation52
SLC6A8solute carrier family 6 (neurotransmitter transporter, creatine), member 8XRare Single Gene Mutation411
SLC7A3Solute carrier family 7 (cationic amino acid transporter, y+ system), member 3XRare Single Gene Mutation32
SLC7A5solute carrier family 7 member 516Rare Single Gene Mutation32
SLC7A7solute carrier family 7 member 714Rare Single Gene Mutation42
SLC9A6solute carrier family 9 (sodium/hydrogen exchanger), member 6XSyndromicS12
SLC9A9solute carrier family 9 (sodium/hydrogen exchanger), member 93Rare Single Gene Mutation411
SLCO1B3Solute carrier organic anion transporter family, member 1B312Rare Single Gene Mutation42
SMAD4SMAD family member 418Rare Single Gene Mutation34
SMARCA2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 29SyndromicS14
SMARCA4SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 419Rare Single Gene Mutation36
SMARCC2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 212Rare Single Gene Mutation2S10
SMC1Astructural maintenance of chromosomes 1AXSyndromicS5
SMC3structural maintenance of chromosomes 310Rare Single Gene Mutation4S7
SMG6SMG6, nonsense mediated mRNA decay factor1742
SNAP25Synaptosomal-associated protein, 25kDa20Genetic Association46
SND1staphylococcal nuclease and tudor domain containing 17Genetic Association48
SNRPNsmall nuclear ribonucleoprotein polypeptide N1555
SNTG2syntrophin gamma 22Rare Single Gene Mutation45
SNX14Sorting nexin 146SyndromicS5
SOX5SRY-box 512SyndromicS13
SPARCL1SPARC like 14Rare Single Gene Mutation33
SPASTSpastin2Rare Single Gene Mutation29
SPP2secreted phosphoprotein 22Rare Single Gene Mutation44
SRCAPSnf2 related CREBBP activator protein16Rare Single Gene Mutation25
SRGAP3SLIT-ROBO Rho GTPase activating protein 33Rare Single Gene Mutation44
SRRM4Serine/arginine repetitive matrix 412Functional55
SRSF11serine and arginine rich splicing factor 111Rare Single Gene Mutation24
SSPOSCO-spondin7Rare Single Gene Mutation43
SSRP1structure specific recognition protein 111Rare Single Gene Mutation42
ST7suppression of tumorigenicity 77Rare Single Gene Mutation44
STAG1stromal antigen 13SyndromicS2
STAT1signal transducer and activator of transcription 12Functional52
STX1ASyntaxin 1A (brain)7Rare Single Gene Mutation46
STXBP1Syntaxin binding protein 19Rare Single Gene Mutation3S34
STXBP5Syntaxin binding protein 5 (tomosyn)6Rare Single Gene Mutation36
SUCLG2succinate-CoA ligase, GDP-forming, beta subunit3Rare Single Gene Mutation64
SYAP1Synapse associated protein 1XRare Single Gene Mutation42
SYN1Synapsin 1XRare Single Gene Mutation418
SYN2Synapsin II3Rare Single Gene Mutation46
SYN3Synapsin III22Functional52
SYNE1spectrin repeat containing, nuclear envelope 16Rare Single Gene Mutation4S15
SYNGAP1synaptic Ras GTPase activating protein 16Rare Single Gene Mutation1S47
SYNJ1synaptojanin 121Rare Single Gene Mutation41
TAF1TATA-box binding protein associated factor 1XSyndromicS3
TAF1CTATA-box binding protein associated factor, RNA polymerase I subunit C16Genetic Association42
TAF1LTAF1 RNA polymerase II9Rare Single Gene Mutation63
TAF6TATA-box binding protein associated factor 67Rare Single Gene Mutation32
TANC2etratricopeptide repeat, ankyrin repeat and coiled-coil containing 217Rare Single Gene Mutation36
TAOK2TAO kinase 216Rare Single Gene Mutation25
TBC1D23TBC1 domain family member 233SyndromicS2
TBC1D31TBC1 domain family, member 318Rare Single Gene Mutation33
TBC1D5TBC1 domain family, member 53Rare Single Gene Mutation47
TBL1XR1transducin beta like 1 X-linked receptor 13Rare Single Gene Mutation218
SLC22A15Solute carrier family 22, member 151Genetic Association41
SLC25A12solute carrier family 25 (mitochondrial carrier, Aralar), member 122Genetic Association420
SLC25A14Solute carrier family 25 (mitochondrial carrier, brain), member 14XFunctional51
SLC25A27solute carrier family 25 member 276Genetic Association41
SLC30A3solute carrier family 30 member 32Functional52
SLC33A1solute carrier family 33 member 13Functional54
SLC35B1solute carrier family 35 member B117Genetic Association31
SLIT3slit guidance ligand 35Rare Single Gene Mutation3
SLITRK5SLIT and NTRK like family member 513Rare Single Gene Mutation39
SNX19sorting nexin 1911Rare Single Gene Mutation3
SNX5sorting nexin 520Rare Single Gene Mutation33
SOD1superoxide dismutase 121Genetic Association42
SPENspenfamily transcriptional repressor1Rare Single Gene Mutation36
SRD5A2steroid 5 alpha-reductase 22Genetic Association3
ST8SIA2ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 215Genetic Association38
STK39serine threonine kinase 39 (STE20/SPS1 homolog, yeast)2Genetic Association45
STYK1Serine/threonine/tyrosine kinase 112Genetic Association41
SYNCRIPsynaptotagmin binding cytoplasmic RNA interacting protein6Rare Single Gene Mutation46
SYT1synaptotagmin 112SyndromicS2
SYT17synaptotagmin XVII16Genetic Association42
SYT3synaptotagmin 319Rare Single Gene Mutation61
TBC1D7TBC1 domain family member 76Functional54
TBL1Xtransducin (beta)-like 1X-linkedXGenetic Association41
TBR1T-box, brain, 12Rare Single Gene Mutation124
TBX1T-box 122Syndromic41
TCF20Transcription factor 20 (AR1)22Rare Single Gene Mutation2S10
TCF4Transcription factor 418Rare Single Gene Mutation3S42
SEMA3Fsemaphorin 3F3Functional51
SERPINE1serpin family E member 17Genetic Association42
SH3RF2SH3 domain containing ring finger 25Functional51
SLC22A3solute carrier family 22 member 36Functional53
SLC39A11solute carrier family 39 member 1117Genetic Association1
TCF7L2Transcription factor 7-like 2 (T-cell specific, HMG-box)10Rare Single Gene Mutation33
TECTAtectorin alpha11Rare Single Gene Mutation46
TERF2Telomeric repeat binding factor 216Rare Single Gene Mutation33
TERTtelomerase reverse transcriptase5Genetic Association52
TET2Tet methylcytosine dioxygenase 24Rare Single Gene Mutation34
TGM3transglutaminase 320Rare Single Gene Mutation65
THBS1Thrombospondin 115Rare Single Gene Mutation43
TLK2tousled-like kinase 217Rare Single Gene Mutation4S10
TM4SF19transmembrane 4 L six family member 193Rare Single Gene Mutation43
TM4SF20Transmembrane 4 L six family member 202SyndromicS1
TMLHEtrimethyllysine hydroxylase, epsilonXRare Single Gene Mutation35
TNIP2TNFAIP3 interacting protein 24Rare Single Gene Mutation51
TNRC6BTrinucleotide repeat containing 6B22Rare Single Gene Mutation27
TOP1Topoisomerase (DNA) I20Functional57
TOP3BTopoisomerase (DNA) III beta22Rare Single Gene Mutation46
TERB2telomere repeat binding bouquet formation protein 215Rare Single Gene Mutation41
TPH2tryptophan hydroxylase 212Genetic Association612
TRAPPC6Btrafficking protein particle complex 6B14SyndromicS2
TRAPPC9trafficking protein particle complex 98Rare Single Gene Mutation311
TRIOTrio Rho guanine nucleotide exchange factor5Rare Single Gene Mutation221
TRIP12Thyroid hormone receptor interactor 122Rare Single Gene Mutation1S15
TRPC6Transient receptor potential cation channel, subfamily C, member 611Rare Single Gene Mutation32
TRPM1transient receptor potential cation channel subfamily M member 115Rare Single Gene Mutation33
TSC1tuberous sclerosis 19SyndromicS18
TSC2tuberous sclerosis 216Rare Single Gene Mutation3S28
TSHZ3teashirt zinc finger homeobox 31942
TSPAN17tetraspanin 175Rare Single Gene Mutation43
TSPAN7tetraspanin 7XRare Single Gene Mutation47
TTI2TELO2 interacting protein 28SyndromicS1
TTNtitin2Rare Single Gene Mutation4S18
TUBGCP5tubulin, gamma complex associated protein 515Rare Single Gene Mutation44
UBE3Aubiquitin protein ligase E3A15Rare Single Gene Mutation3S26
UBE3Bubiquitin protein ligase E3B12Rare Single Gene Mutation56
UBE3CUbiquitin protein ligase E3C7Rare Single Gene Mutation34
UBL7ubiquitin-like 7 (bone marrow stromal cell-derived)15Rare Single Gene Mutation61
UBN2ubinuclein 27Rare Single Gene Mutation23
UBR5ubiquitin protein ligase E3 component n-recognin 58Rare Single Gene Mutation36
UBR7ubiquitin protein ligase E3 component n-recognin 7 (putative)14Rare Single Gene Mutation51
UNC13Aunc-13 homolog A19Rare Single Gene Mutation4S5
UNC79unc-79 homolog, NALCN channel complex subunit14Rare Single Gene Mutation32
UNC80unc-80 homolog, NALCN activator2Rare Single Gene Mutation45
UPB1beta-ureidopropionase 122Rare Single Gene Mutation51
UPF2UPF2, regulator of nonsense mediated mRNA decay10Rare Single Gene Mutation55
UPF3BUPF3B, regulator of nonsense mediated mRNA decayXRare Single Gene Mutation2S12
USH2Ausherin1Rare Single Gene Mutation43
USP15ubiquitin specific peptidase 1512Rare Single Gene Mutation23
TSPOAP1TSPO associated protein 117Rare Single Gene Mutation45
TDO2tryptophan 2,3-dioxygenase4Genetic Association44
THtyrosine hydroxylase11Functional518
THAP8THAP domain containing 819Rare Single Gene Mutation1
THRAthyroid hormone receptor alpha17Rare Single Gene Mutation43
TMEM231transmembrane protein 23116Syndromic2
TNNtenascin N1Rare Single Gene Mutation3
TOMM20Translocase of outer mitochondrial membrane 20 homolog (yeast)1Functional51
TPOThyroid peroxidase2Genetic Association41
TRAF7TNF receptor associated factor 716Rare Single Gene Mutation4S3
TRRAPtransformation/transcription domain associated protein7Rare Single Gene Mutation4S8
USP45Ubiquitin specific peptidase 456Rare Single Gene Mutation32
USP7Ubiquitin specific peptidase 7 (herpes virus-associated)16Rare Single Gene Mutation2S7
USP9Yubiquitin specific peptidase 9, Y-linkedYGenetic Association42
UTRNutrophin6Rare Single Gene Mutation1
VIL1Villin 12Rare Single Gene Mutation31
VIPvasoactive intestinal peptide6Functional56
VPS13Bvacuolar protein sorting 13 homolog B (yeast)8SyndromicS18
VSIG4V-set and immunoglobulin domain containing 4XRare Single Gene Mutation42
WACWW domain containing adaptor with coiled-coil10Rare Single Gene Mutation2S17
WASF1WAS protein family member 16SyndromicS1
WDFY3WD repeat and FYVE domain containing 34Rare Single Gene Mutation213
TRIM33Tripartite motif containing 331Genetic Association41
TTC25tetratricopeptide repeat domain 2517Genetic Association41
UBA6Ubiquitin-like modifier activating enzyme 64Functional52
UBE2Hubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)7Genetic Association42
UCN3urocortin 310Functional51
VASH1vasohibin 114Genetic Association44
VDRvitamin D receptor12Genetic Association47
VLDLRVery low density lipoprotein receptor9Functional53
VRK3vaccinia related kinase 319Functional51
WDFY4WDFY family member 410Rare Single Gene Mutation35
WDR26WD repeat domain 261SyndromicS3
WDR93WD repeat domain 9315Rare Single Gene Mutation51
WNK3WNK lysine deficient protein kinase 3XRare Single Gene Mutation46
WNT1Wingless-type MMTV integration site family, member 112Genetic Association43
WNT2wingless-type MMTV integration site family member 27Rare Single Gene Mutation510
WWOXWW domain containing oxidoreductase16Rare Single Gene Mutation38
XIRP1xin actin-binding repeat containing 13Rare Single Gene Mutation67
XPCxeroderma pigmentosum, complementation group C3SyndromicS9
XPO1Exportin 1 (CRM1 homolog, yeast)2Genetic Association45
YTHDC2YTH domain containing 25Rare Single Gene Mutation45
YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon1745
YY1YY1transcription factor14SyndromicS4
ZBTB16Zinc finger and BTB domain containing 1611Genetic Association41
ZBTB20Zinc finger and BTB domain containing 203Rare Single Gene Mutation3S20
ZC3H4zinc finger CCCH-type containing 419Rare Single Gene Mutation33
ZMYND11Zinc finger, MYND-type containing 1110Rare Single Gene Mutation310
YEATS2YEATS domain containing 23Genetic Association41
ZNF18zinc finger protein 1817Rare Single Gene Mutation41
ZNF292zinc finger protein 2926Rare Single Gene Mutation44
ZNF385BZinc finger protein 385B2Genetic Association42
ZNF407zinc finger protein 40718Rare Single Gene Mutation5
ZNF462Zinc finger protein 4629Rare Single Gene Mutation4S7
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
ZNF8Zinc finger protein 819Rare Single Gene Mutation51
ZNF804AZinc finger protein 804A2Rare Single Gene Mutation313
ZNF827Zinc finger protein 8274Genetic Association41
ZSWIM5zinc finger, SWIM-type containing 51Rare Single Gene Mutation61
ZSWIM6zinc finger SWIM-type containing 65SyndromicS2
ZWILCHzwilchkinetochore protein15Rare Single Gene Mutation43
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