Human Gene Module 910 total genes

Database updated on October 12, 2017

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Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ARNT2aryl-hydrocarbon receptor nuclear translocator 215Rare Single Gene Mutation, Syndromic, Genetic Association411
ATP1A3ATPase Na+/K+ transporting subunit alpha 319Rare Single Gene Mutation, Syndromic, FunctionalS8
ATRXalpha thalassemia/mental retardation syndrome X-linkedXRare Single Gene Mutation, Syndromic414
CADPS2Ca2+-dependent activator protein for secretion 27Rare Single Gene Mutation, Functional412
CHKBCholine kinase beta22Rare Single Gene Mutation, SyndromicS4
CNOT3CCR4-NOT transcription complex subunit 319Rare Single Gene Mutation, Syndromic3S3
CTCFCCCTC-binding factor (zinc finger protein)16Rare Single Gene Mutation, Functional310
CTNNB1Catenin (cadherin-associated protein), beta 1, 88kDa3Rare Single Gene Mutation, Syndromic318
CTTNBP2cortactin binding protein 27Rare Single Gene Mutation, Syndromic36
CXCR3chemokine (C-X-C motif) receptor 3XRare Single Gene Mutation58
DIAPH3Diaphanous-related formin 313Rare Single Gene Mutation, Genetic Association511
DISC1disrupted in schizophrenia 11Rare Single Gene Mutation, Syndromic, Genetic Association332
DMPKdystrophia myotonica-protein kinase19Rare Single Gene Mutation, SyndromicS7
FBN1Fibrillin 115Rare Single Gene Mutation37
FRMPD4FERM and PDZ domain containing 4XRare Single Gene Mutation, Syndromic53
GLRA2glycine receptor, alpha 2XRare Single Gene Mutation511
GRIN1Glutamate receptor, ionotropic, N-methyl D-aspartate 19Rare Single Gene Mutation, Functional312
HCN1Hyperpolarization activated cyclic nucleotide-gated potassium channel 15Rare Single Gene MutationS5
HSD11B1hydroxysteroid (11-beta) dehydrogenase 11Syndromic48
IL1RAPL1interleukin 1 receptor accessory protein-like 1XRare Single Gene Mutation420
IQSEC2IQ motif and Sec7 domain 2XRare Single Gene Mutation, Syndromic4S14
KCNMA1potassium large conductance calcium-activated channel, subfamily M, alpha member 110Rare Single Gene Mutation417
DUSP22dual specificity phosphatase 226Rare Single Gene Mutation1
DLG4Discs, large homolog 4 (Drosophila)17Rare Single Gene Mutation, Syndromic, Functional8
CEP290Centrosomal protein 290kDa12Rare Single Gene Mutation, Syndromic6
CDKN1BCyclin-dependent kinase inhibitor 1B (p27, Kip1)121
CELF4CUGBP, Elav-like family member 418Rare Single Gene Mutation, Functional7
CAMSAP2calmodulin regulated spectrin-associated protein family, member 21Rare Single Gene Mutation1
CBScystathionine beta-synthase21Rare Single Gene Mutation, Syndromic, Functional5
EEF1A2Eukaryotic translation elongation factor 1 alpha 220Rare Single Gene Mutation, Syndromic7
AP1S2Adaptor-related protein complex 1, sigma 2 subunitXRare Single Gene Mutation, Syndromic5
BIN1Bridging integrator 12Rare Single Gene Mutation, Genetic Association3
ANK3Ankyrin 3, node of Ranvier (ankyrin G)10Rare Single Gene Mutation, Genetic Association22
ADNPActivity-dependent neuroprotector homeobox20Rare Single Gene Mutation, Syndromic1S20
ALDH5A1aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase )6Rare Single Gene Mutation, SyndromicS9
ALG6ALG6, alpha-1,3-glucosyltransferase1SyndromicS1
ARID1BAT rich interactive domain 1B (SWI1-like)6Rare Single Gene Mutation, Syndromic1S28
AVPR1Aarginine vasopressin receptor 1A12Rare Single Gene Mutation, Genetic Association319
CNTN6Contactin 63Rare Single Gene Mutation, Genetic Association39
CYP11B1cytochrome P450, family 11, subfamily B, polypeptide 18Syndromic44
DIXDC1DIX domain containing 111Rare Single Gene Mutation, Functional44
DYRK1ADual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A21Rare Single Gene Mutation, Syndromic1S30
EXT1Exostosin 18Rare Single Gene Mutation, Genetic Association45
FGFBP3fibroblast growth factor binding protein 310Rare Single Gene Mutation51
FOXP1forkhead box P13Rare Single Gene Mutation, Genetic Association, Functional228
FOXP2forkhead box P27Rare Single Gene Mutation, Genetic Association336
IMMP2LIMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)7Rare Single Gene Mutation, Genetic Association510
HUWE1HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligaseXRare Single Gene Mutation, Syndromic8
ARHGEF9Cdc42 guanine nucleotide exchange factor (GEF) 9XRare Single Gene Mutation4
ADORA2Aadenosine A2a receptor22Syndromic47
ADSLadenylosuccinate lyase22Rare Single Gene Mutation, SyndromicS5
AHI1Abelson helper integration site 16Rare Single Gene Mutation, Syndromic, Genetic AssociationS18
ARHGAP32Rho GTPase activating protein 3211Rare Single Gene Mutation, Functional44
ASMTacetylserotonin O-methyltransferaseX,YRare Single Gene Mutation, Genetic Association49
ASTN2astrotactin 29Rare Single Gene Mutation, Genetic Association311
BCKDKBranched chain ketoacid dehydrogenase kinase16Rare Single Gene Mutation23
CADM1cell adhesion molecule 111Rare Single Gene Mutation48
CAMTA1calmodulin binding transcription activator 11Rare Single Gene Mutation56
CDKL5cyclin-dependent kinase-like 5XRare Single Gene Mutation, SyndromicS28
CNTN4contactin 43Rare Single Gene Mutation, Syndromic, Genetic Association217
CNTN5Contactin 511Rare Single Gene Mutation, Genetic Association39
CREBBPCREB binding protein16Rare Single Gene Mutation, Syndromic, Genetic Association516
CTNNA3catenin (cadherin-associated protein), alpha 310Rare Single Gene Mutation, Genetic Association413
DDX53DEAD (Asp-Glu-Ala-Asp) box polypeptide 53XRare Single Gene Mutation43
DYNC1H1dynein cytoplasmic 1 heavy chain 1 14Rare Single Gene Mutation39
EP300E1A binding protein p30022Rare Single Gene Mutation, Syndromic4S13
FABP3Fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)1Functional51
FABP5fatty acid binding protein 5 (psoriasis-associated)8Rare Single Gene Mutation, Functional46
FABP7fatty acid binding protein 7, brain6Rare Single Gene Mutation, Genetic Association, Functional67
FGD1FYVE, RhoGEF and PH domain containing 1XRare Single Gene Mutation, Syndromic53
GATMGlycine amidinotransferase (L-arginine:glycine amidinotransferase) 15SyndromicS2
GRIK2glutamate receptor, ionotropic, kainate 26Rare Single Gene Mutation, Genetic Association317
HDAC4histone deacetylase 42Rare Single Gene Mutation, Syndromic, Genetic AssociationS12
HOXA1homeobox A17Rare Single Gene Mutation, Syndromic, Genetic AssociationS15
ICA1islet cell autoantigen 1, 69kDa7Rare Single Gene Mutation44
ADCY5Adenylate cyclase 53Rare Single Gene Mutation45
AFF2AF4/FMR2 family, member 2XRare Single Gene Mutation, Syndromic414
AFF4AF4/FMR2 family, member 45Rare Single Gene Mutation, Syndromic67
AGBL4ATP/GTP binding protein-like 41Rare Single Gene Mutation43
BRCA2breast cancer 2, early onset13Rare Single Gene Mutation43
BST1bone marrow stromal cell antigen 14Genetic Association, Functional44
BTAF1RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae)10Rare Single Gene Mutation64
C12orf57Chromosome 12 open reading frame 5712Rare Single Gene Mutation, SyndromicS8
CACNA1Ccalcium channel, voltage-dependent, L type, alpha 1C subunit12Rare Single Gene Mutation, Syndromic, Genetic AssociationS37
CACNA1Hcalcium channel, voltage-dependent, alpha 1H subunit16Rare Single Gene Mutation220
CC2D1ACoiled-coil and C2 domain containing 1A19Rare Single Gene Mutation, Functional39
DEAF1DEAF1 transcription factor11Rare Single Gene Mutation, Syndromic2S11
DMDdystrophin (muscular dystrophy, Duchenne and Becker types)XRare Single Gene Mutation, Syndromic, Genetic AssociationS34
EHMT1Euchromatic histone-lysine N-methyltransferase 19Rare Single Gene Mutation, Syndromic3S19
ESR1estrogen receptor 16Syndromic, Genetic Association59
ESR2estrogen receptor 2 (ER beta)14Rare Single Gene Mutation, Syndromic47
FMR1fragile X mental retardation 1XRare Single Gene Mutation, Syndromic, Genetic Association, FunctionalS39
GABRB1gamma-aminobutyric acid (GABA) A receptor, beta 14Rare Single Gene Mutation, Genetic Association55
GABRB3gamma-aminobutyric acid (GABA) A receptor, beta 315Rare Single Gene Mutation, Genetic Association235
GPHNGephyrin14Rare Single Gene Mutation38
HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 215Rare Single Gene MutationS6
HRASv-Ha-ras Harvey rat sarcoma viral oncogene homolog11Rare Single Gene Mutation, Syndromic, Genetic Association411
JMJD1Cjumonji domain containing 1C10Rare Single Gene Mutation47
KAT6AK(lysine) acetyltransferase 6A8Rare Single Gene Mutation, Syndromic3S7
ANKRD11ankyrin repeat domain 1116Rare Single Gene Mutation, Syndromic2S31
APCadenomatosis polyposis coli5Rare Single Gene Mutation, Genetic Association, Functional59
ARHGAP24Rho GTPase activating protein 244Rare Single Gene Mutation51
ARXaristaless related homeoboxXRare Single Gene Mutation, SyndromicS13
ASXL3Additional sex combs like 3 (Drosophila)18Rare Single Gene Mutation, Syndromic1S12
CASKcalcium/calmodulin dependent serine protein kinase XRare Single Gene Mutation, Syndromic48
CHD2Chromodomain helicase DNA binding protein 215Rare Single Gene Mutation, Syndromic2S22
CHD7chromodomain helicase DNA binding protein 78Rare Single Gene Mutation, SyndromicS20
CHD8chromodomain helicase DNA binding protein 814Rare Single Gene Mutation1S24
CNR1cannabinoid receptor 1 (brain)6Rare Single Gene Mutation, Genetic Association36
DDX3XDEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linkedXRare Single Gene Mutation, Syndromic2S9
DHCR77-dehydrocholesterol reductase11Rare Single Gene Mutation, SyndromicS12
DPP6dipeptidyl-peptidase 67Rare Single Gene Mutation, Genetic Association, Functional423
DRD3dopamine receptor D33Rare Single Gene Mutation, Genetic Association48
ELP4Elongator acetyltransferase complex subunit 411Rare Single Gene Mutation, Genetic Association35
GRPRGastrin-releasing peptide receptorXRare Single Gene Mutation, Genetic Association57
HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 22Rare Single Gene Mutation34
HEPACAMhepatic and glial cell adhesion molecule11Rare Single Gene Mutation, SyndromicS7
HNRNPH2heterogeneous nuclear ribonucleoprotein H2 (H')XRare Single Gene Mutation44
ITPR1inositol 1,4,5-trisphosphate receptor type 13Rare Single Gene Mutation47
AHDC1AT-hook DNA binding motif containing 11Rare Single Gene Mutation, Syndromic3S7
ASH1LAsh1 (absent, small, or homeotic)-like (Drosophila)1Rare Single Gene Mutation110
AUTS2autism susceptibility candidate 27Rare Single Gene Mutation, Syndromic, Genetic Association332
BCL11AB-cell CLL/lymphoma 11A (zinc finger protein)2Rare Single Gene Mutation, Syndromic2S12
CACNB2Calcium channel, voltage-dependent, beta 2 subunit10Rare Single Gene Mutation, Genetic Association33
CHRNA7cholinergic receptor, nicotinic, alpha 715Rare Single Gene Mutation311
CICcapicua transcriptional repressor19Rare Single Gene Mutation, Functional2S4
CNKSR2connector enhancer of kinase suppressor of Ras 2XSyndromic3S1
CNTNAP2contactin associated protein-like 27Rare Single Gene Mutation, Syndromic, Genetic Association2S55
CNTNAP4Contactin associated protein-like 416Rare Single Gene Mutation, Functional39
CNTNAP5contactin associated protein-like 52Rare Single Gene Mutation, Genetic Association411
FOXG1Forkhead box G114Rare Single Gene Mutation, Syndromic520
GRIN2Bglutamate receptor, inotropic, N-methyl D-apartate 2B12Rare Single Gene Mutation, Syndromic, Genetic Association141
ABAT4-aminobutyrate aminotransferase16Genetic Association44
ABCA10ATP-binding cassette, sub-family A (ABC1), member 1017Rare Single Gene Mutation41
ACEangiotensin I converting enzyme 17Rare Single Gene Mutation, Genetic Association42
ACHEAcetylcholinesterase (Yt blood group) 7Rare Single Gene Mutation34
ADAadenosine deaminase20Genetic Association35
ADCY3adenylate cyclase 32Rare Single Gene Mutation32
ADKadenosine kinase10Rare Single Gene Mutation41
ADRB2adrenergic, beta-2-, receptor, surface5Genetic Association410
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 Mutation33
AGMOalkylglycerol monooxygenase7Rare Single Gene Mutation, Genetic Association45
AGTR2angiotensin II receptor, type 2XRare Single Gene Mutation43
AKAP9A kinase (PRKA) anchor protein 9 7Rare Single Gene Mutation34
ALOX5AParachidonate 5-lipoxygenase-activating protein3Functional54
AMPD1Adenosine monophosphate deaminase 11Rare Single Gene Mutation, Genetic Association33
AMTAminomethyltransferase3Rare Single Gene Mutation31
ANK2Ankyrin 2, neuronal4Rare Single Gene Mutation111
ANXA1Annexin A19Rare Single Gene Mutation32
APBA2amyloid beta (A4) precursor protein-binding, family A, member 215Rare Single Gene Mutation46
APH1AAPH1A gamma secretase subunit 1Rare Single Gene Mutation32
ARandrogen receptorXGenetic Association46
ARHGAP15Rho GTPase activating protein 152Rare Single Gene Mutation67
ARHGAP33Rho GTPase activating protein 3319Rare Single Gene Mutation, Functional52
ASS1argininosuccinate synthetase9Functional53
ATG7Autophagy related 73Functional52
ATP10AProbable phospholipid-transporting ATPase VA15Rare Single Gene Mutation, Genetic Association, Functional37
ATP2B2ATPase, Ca++ transporting, plasma membrane 23Rare Single Gene Mutation, Genetic Association37
ATP8A1ATPase phospholipid transporting 8A1 4Functional51
ATRNL1Attractin-like 110Rare Single Gene Mutation51
ATXN7Ataxin 73Rare Single Gene Mutation51
AVPArginine vasopressin20Genetic Association, Functional54
AVPR1Barginine vasopressin receptor 1B1Genetic Association, Functional48
BAIAP2BAI1-associated protein 217Rare Single Gene Mutation, Genetic Association510
BCL2B-cell CLL/lymphoma 218Functional610
BRAFv-raf murine sarcoma viral oncogene homolog B7Rare Single Gene Mutation, SyndromicS7
BRINP1BMP/retinoic acid inducible neural specific 19Functional52
BZRAP1benzodiazapine receptor (peripheral) associated protein 117Rare Single Gene Mutation45
C11orf30Chromosome 11 open reading frame 3011Rare Single Gene Mutation, Functional33
C15orf43chromosome 15 open reading frame 4315Rare Single Gene Mutation41
C3orf58chromosome 3 open reading frame 583Rare Single Gene Mutation43
C4Bcomplement component 4B6Genetic Association, Functional45
CA6carbonic anhydrase VI1Rare Single Gene Mutation46
CACNA1Dcalcium channel, voltage-dependent, L type, alpha 1D3Rare Single Gene Mutation, Functional212
CACNA1Ecalcium voltage-gated channel subunit alpha1 E1Rare Single Gene Mutation38
CACNA1Fcalcium channel, voltage-dependent, alpha 1FXRare Single Gene Mutation, Genetic Association47
CACNA1Gcalcium channel, voltage-dependent, T type, alpha 1G subunit17Rare Single Gene Mutation, Genetic Association418
GRIN2Aglutamate receptor, ionotropic, N-methyl D-aspartate 2A16Rare Single Gene Mutation, Syndromic, Genetic Association430
KCNJ10Potassium inwardly-rectifying channel, subfamily J, member 101Rare Single Gene Mutation, Syndromic, Genetic Association310
CACNA1ICalcium channel, voltage-dependent, T type, alpha 1I subunit22Rare Single Gene Mutation, Genetic Association45
CACNA2D3Calcium channel, voltage-dependent, alpha 2/delta subunit 33Rare Single Gene Mutation25
CAMK2Acalcium/calmodulin dependent protein kinase II alpha5Rare Single Gene Mutation, Functional42
CAMK4Calcium/calmodulin-dependent protein kinase IV5Genetic Association41
CAPN12Calpain 1219Rare Single Gene Mutation44
CAPRIN1Cell cycle associated protein 111Rare Single Gene Mutation, Functional33
CASC4cancer susceptibility candidate 415Rare Single Gene Mutation44
CBLN1cerebellin 1 precursor16Genetic Association, Functional56
CCDC64coiled-coil domain containing 6412Genetic Association42
CCDC88CCoiled-coil domain containing 88C14Rare Single Gene Mutation44
CCDC91coiled-coil domain containing 91 12Rare Single Gene Mutation43
CCT4Chaperonin containing TCP1, subunit 4 (delta) 2Rare Single Gene Mutation33
CD44CD44 molecule (Indian blood group)11Functional53
CDC42BPBCDC42 binding protein kinase beta (DMPK-like) 14Rare Single Gene Mutation36
CDH10cadherin 10, type 2 (T2-cadherin)5Rare Single Gene Mutation, Genetic Association49
CDH22cadherin-like 2220Genetic Association44
CDH8cadherin 8, type 216Rare Single Gene Mutation49
CDH9cadherin 9, type 2 (T1-cadherin)5Rare Single Gene Mutation, Genetic Association46
CEP41testis specific, 147Rare Single Gene Mutation33
CGNL1Cingulin-like 115Rare Single Gene Mutation32
CHST5carbohydrate sulfotransferase 516Rare Single Gene Mutation65
CIB2Calcium and integrin binding family member 215Rare Single Gene Mutation31
CLASP1cytoplasmic linker associated protein 12Rare Single Gene Mutation33
CLN8Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)8Rare Single Gene Mutation, Syndromic43
CLSTN3Calsyntenin 312Rare Single Gene Mutation, Functional52
CLTCL1clathrin, heavy chain-like 122Rare Single Gene Mutation44
CNR2Cannabinoid receptor 2 (macrophage)1Genetic Association, Functional53
CRHR2corticotropin releasing hormone receptor 27Functional53
CSNK1Dcasein kinase 1, delta17Rare Single Gene Mutation61
CTNND2Catenin (cadherin-associated protein), delta 25Rare Single Gene Mutation24
CUL3Cullin 32Rare Single Gene Mutation113
CUL7Cullin 76Rare Single Gene Mutation33
CUX1cut like homeobox 17Rare Single Gene Mutation, Functional33
CX3CR1Chemokine (C-X3-C motif) receptor 13Functional52
CYLC2cylicin, basic protein of sperm head cytoskeleton 2 9Rare Single Gene Mutation43
DAB1disabled homolog 1 (Drosophila)1Rare Single Gene Mutation, Functional57
DAPK1death-associated protein kinase 19Rare Single Gene Mutation, Genetic Association, Functional55
DAPP1Dual adaptor of phosphotyrosine and 3-phosphoinositides4Rare Single Gene Mutation31
DCTN5dynactin 516Rare Single Gene Mutation53
DCUN1D1DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)3Functional53
DDX11DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1112Functional53
DENRdensity-regulated protein12Rare Single Gene Mutation32
DGKKdiacylglycerol kinase kappa XFunctional51
DIP2ADIP2 disco-interacting protein 2 homolog A (Drosophila)21Rare Single Gene Mutation34
DIP2Cdisco interacting protein 2 homolog C10Rare Single Gene Mutation22
DLGAP2discs, large (Drosophila) homolog-associated protein 28Rare Single Gene Mutation412
DLX1distal-less homeobox 12Genetic Association58
DLX2distal-less homeobox 22Genetic Association411
DLX6distal-less homeobox 67Rare Single Gene Mutation49
DMXL2Dmx-like 2 15Rare Single Gene Mutation42
DNAJC19DnaJ (Hsp40) homolog, subfamily C, member 193Functional51
DNERDelta/notch-like EGF repeat containing2Rare Single Gene Mutation, Genetic Association42
DNM1LDynamin 1-like12Rare Single Gene Mutation, Functional52
DNMT3ADNA (cytosine-5-)-methyltransferase 3 alpha 2Rare Single Gene Mutation37
DOCK1Dedicator of cytokinesis 1 10Rare Single Gene Mutation42
DOCK8dedicator of cytokinesis 89Rare Single Gene Mutation35
DPP10Dipeptidyl-peptidase 102Rare Single Gene Mutation310
DPP4Dipeptidyl-peptidase 4 2Rare Single Gene Mutation, Genetic Association46
DPYDdihydropyrimidine dehydrogenase1Rare Single Gene Mutation, Genetic Association47
DSCAMDown syndrome cell adhesion molecule21Rare Single Gene Mutation, Genetic Association17
DSTDystonin6Rare Single Gene Mutation44
DUSP15dual specificity phosphatase 1520Rare Single Gene Mutation, Genetic Association42
DVL1Dishevelled segment polarity protein 11Functional53
DVL3Dishevelled segment polarity protein 33Rare Single Gene Mutation, Functional43
DYDC1DPY30 domain containing 11041
DYDC2DPY30 domain containing 21041
EFR3AEFR3 homolog A (S. cerevisiae)8Rare Single Gene Mutation35
EGR2early growth response 2 (Krox-20 homolog, Drosophila)10Functional54
EIF3Geukaryotic translation initiation factor 3 subunit G 19Rare Single Gene Mutation43
EIF4Eeukaryotic translation initiation factor 4E4Rare Single Gene Mutation, Genetic Association412
EIF4EBP2Eukaryotic translation initiation factor 4E binding protein 210Functional51
ELAVL2ELAV like neuron-specific RNA binding protein 29Rare Single Gene Mutation, Genetic Association, Functional45
ELAVL3ELAV like neuron-specific RNA binding protein 319Rare Single Gene Mutation32
EML1echinoderm microtubule associated protein like 114Rare Single Gene Mutation52
EN2engrailed homolog 27Rare Single Gene Mutation, Genetic Association, Functional419
EP400E1A binding protein p40012Rare Single Gene Mutation35
EPC2Enhancer of polycomb homolog 2 (Drosophila)2Rare Single Gene Mutation44
EPHA6EPH receptor A63Rare Single Gene Mutation56
EPHB6EPH receptor B67Rare Single Gene Mutation55
ERBB4v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian)2Rare Single Gene Mutation514
ERBINerbb2 interacting protein5Rare Single Gene Mutation25
ERGv-ets erythroblastosis virus E26 oncogene homolog (avian)21Genetic Association41
ERMNermin2Rare Single Gene Mutation41
ESRRBestrogen-related receptor beta14Rare Single Gene Mutation, Genetic Association47
ETFBElectron-transfer-flavoprotein, beta polypeptide19Rare Single Gene Mutation32
F13A1coagulation factor XIII, A1 polypeptide6Rare Single Gene Mutation, Functional56
FAM47Afamily with sequence similarity 47 member AXRare Single Gene Mutation41
FAM92BFamily with sequence similarity 92, member B16Rare Single Gene Mutation32
FBXO33F-box protein 3314Genetic Association43
FBXO40F-box protein 403Rare Single Gene Mutation, Genetic Association44
FEZF2FEZ family zinc finger 23Rare Single Gene Mutation, Genetic Association48
FHITfragile histidine triad gene3Rare Single Gene Mutation, Genetic Association411
FLT1fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular perme ability factor receptor)13Functional53
FOLH1Folate hydrolase (prostate-specific membrane antigen) 111Functional52
FRKfyn-related kinase6Rare Single Gene Mutation, Genetic Association43
GABRA1Gamma-aminobutyric acid (GABA) A receptor, alpha 15Rare Single Gene Mutation, Functional56
GABRA4gamma-aminobutyric acid (GABA) A receptor, alpha 44Rare Single Gene Mutation, Genetic Association46
GABRA5gamma-aminobutyric acid type A receptor alpha5 subunit15Genetic Association, Functional57
GABRQGamma-aminobutyric acid (GABA) A receptor, thetaXRare Single Gene Mutation51
GAD1Glutamate decarboxylase 1 (brain, 67kDa)2Rare Single Gene Mutation, Functional55
GADD45BGrowth arrest and DNA-damage-inducible, beta19Rare Single Gene Mutation, Functional54
GALNT13UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)2Rare Single Gene Mutation44
GALNT14UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)2Rare Single Gene Mutation, Genetic Association44
GAP43Growth associated protein 433Functional51
GAS2Growth arrest-specific 211Genetic Association41
GIGYF1GRB10 interacting GYF protein 17Rare Single Gene Mutation33
GIGYF2GRB10 interacting GYF protein 22Rare Single Gene Mutation26
GLIS1GLIS family zinc finger 11Genetic Association41
GLO1glyoxalase I6Genetic Association49
GNA14Guanine nucleotide binding protein (G protein), alpha 149Rare Single Gene Mutation61
GNB1Lguanine nucleotide binding protein (G protein), beta polypeptide 1-like22Rare Single Gene Mutation, Genetic Association42
GPC4glypican 4XRare Single Gene Mutation31
GPC6glypican 613Rare Single Gene Mutation, Genetic Association48
GPR139G protein-coupled receptor 13916Rare Single Gene Mutation55
GPR37G protein-coupled receptor 37 (endothelin receptor type B-like)7Rare Single Gene Mutation42
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
GRIK4Glutamate receptor, ionotropic, kainate 411Rare Single Gene Mutation, Functional53
GRIK5Glutamate receptor, ionotropic, kainate 519Rare Single Gene Mutation36
GRIP1glutamate receptor interacting protein 112Rare Single Gene Mutation212
GRM4Glutamate receptor, metabotropic 46Functional51
GRM7Glutamate receptor, metabotropic 73Rare Single Gene Mutation, Genetic Association413
GRM8glutamate receptor, metabotropic 87Rare Single Gene Mutation, Genetic Association67
GSK3BGlycogen synthase kinase 3 beta3Rare Single Gene Mutation, Functional54
GSTM1glutathione S-transferase M11Genetic Association43
GTF2Igeneral transcription factor IIi7Rare Single Gene Mutation, Genetic Association45
GUCY1A2Guanylate cyclase 1, soluble, alpha 211Genetic Association41
HDAC3histone deacetylase 35Rare Single Gene Mutation, Functional55
HDChistidine decarboxylase15Rare Single Gene Mutation, Functional56
HECTD4HECT domain E3 ubiquitin protein ligase 412Rare Single Gene Mutation42
HIVEP3human immunodeficiency virus type I enhancer binding protein 3 1Rare Single Gene Mutation, Genetic Association33
HLA-Amajor histocompatibility complex, class I, A6Genetic Association48
HLA-BMajor histocompatibility complex, class I, B6Genetic Association43
HMGN1high mobility group nucleosome binding domain 121Genetic Association31
HOMER1Homer homolog 1 (Drosophila)5Rare Single Gene Mutation, Functional45
HOXB1homeobox B117Rare Single Gene Mutation, Genetic Association58
HS3ST5heparan sulfate (glucosamine) 3-O-sulfotransferase 56Genetic Association46
HTR1B5-hydroxytryptamine (serotonin) receptor 1B6Rare Single Gene Mutation, Genetic Association46
HTR2A5-hydroxytryptamine (serotonin) receptor 2A13Rare Single Gene Mutation, Genetic Association59
HTR3A5-hydroxytryptamine (serotonin) receptor 3A11Rare Single Gene Mutation, Genetic Association, Functional47
HTR3C5-hydroxytryptamine (serotonin) receptor 3, family member C3Rare Single Gene Mutation, Genetic Association45
HTR75-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)10Rare Single Gene Mutation, Genetic Association65
HYDINHYDIN, axonemal central pair apparatus protein1641
IFNGinterferon gamma12Functional513
IFNGR1interferon gamma receptor 16Functional51
IL17AInterleukin 17A6Functional51
IL1R2interleukin 1 receptor, type II2Rare Single Gene Mutation46
IL1RAPL2interleukin 1 receptor accessory protein-like 2XRare Single Gene Mutation, Genetic Association42
IL6interleukin 67Functional55
ILF2Interleukin enhancer binding factor 2 1Rare Single Gene Mutation24
INPP1inositol polyphosphate-1-phosphatase2Rare Single Gene Mutation, Genetic Association44
INTS6Integrator complex subunit 613Rare Single Gene Mutation24
IQGAP3IQ motif containing GTPase activating protein 31Rare Single Gene Mutation42
IRF2BPLInterferon regulatory factor 2 binding protein-like 14Rare Single Gene Mutation23
ITGA4integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)2Genetic Association55
ITGB3integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)17Rare Single Gene Mutation, Genetic Association312
ITGB7integrin, beta 712Rare Single Gene Mutation, Functional54
JAKMIP1Janus kinase and microtubule interacting protein 1 4Rare Single Gene Mutation, Functional56
KAT2BK(lysine) acetyltransferase 2B 3Rare Single Gene Mutation25
KATNAL1katanin catalytic subunit A1 like 113Rare Single Gene Mutation, Functional42
KATNAL2Katanin p60 subunit A-like 218Rare Single Gene Mutation17
SBF1SET binding factor 122Rare Single Gene Mutation36
SHANK2SH3 and multiple ankyrin repeat domains 211Rare Single Gene Mutation, Syndromic, Functional223
SMARCC2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 212Rare Single Gene Mutation, Syndromic, Functional28
DLG1Discs, large homolog 1 (Drosophila)3Rare Single Gene Mutation2
CD99L2CD99 molecule-like 2XGenetic Association1
GRM5Glutamate receptor, metabotropic 511Rare Single Gene Mutation, Genetic Association, Functional5
GRM1Glutamate receptor, metabotropic 16Rare Single Gene Mutation, Genetic Association6
GRID1Glutamate receptor, ionotropic, delta 110Rare Single Gene Mutation, Genetic Association6
ADARB1Adenosine deaminase, RNA-specific, B121Rare Single Gene Mutation, Functional2
ABCA7ATP-binding cassette, sub-family A (ABC1), member 719Rare Single Gene Mutation2
EPS8Epidermal growth factor receptor pathway substrate 812Functional1
GRID2IPGlutamate receptor, ionotropic, delta 2 (Grid2) interacting protein7Rare Single Gene Mutation1
EXOC3Exocyst complex component 35Rare Single Gene Mutation1
EXOC6Exocyst complex component 610Rare Single Gene Mutation1
EXOC5Exocyst complex component 514Rare Single Gene Mutation2
KCNQ2Potassium voltage-gated channel, KQT-like subfamily, member 220Rare Single Gene Mutation, Genetic Association315
KCNQ3Potassium voltage-gated channel, KQT-like subfamily, member 38Rare Single Gene Mutation, Genetic Association36
KIAA2022KIAA2022XRare Single Gene Mutation, Syndromic315
MACROD2MACRO domain containing 220Rare Single Gene Mutation, Genetic Association317
MBOAT7membrane bound O-acyltransferase domain containing 719Rare Single Gene Mutation, Syndromic2S2
MECP2Methyl CpG binding protein 2XRare Single Gene Mutation, Syndromic, Functional2S63
NF1neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)17Rare Single Gene Mutation, Syndromic, Genetic AssociationS21
NR2F1nuclear receptor subfamily 2 group F member 15Rare Single Gene Mutation, Syndromic4S9
OXTRoxytocin receptor3Rare Single Gene Mutation, Genetic Association, Functional339
PIK3CGphosphoinositide-3-kinase, catalytic, gamma polypeptide7Genetic Association44
PPP1R3Fprotein phosphatase 1, regulatory (inhibitor) subunit 3FXRare Single Gene Mutation53
PRKDCprotein kinase, DNA-activated, catalytic polypeptide8Rare Single Gene Mutation, Syndromic, Functional43
PSMD10proteasome (prosome, macropain) 26S subunit, non-ATPase, 10XRare Single Gene Mutation56
PSMD12proteasome 26S subunit, non-ATPase 1217SyndromicS1
PTENphosphatase and tensin homolog (mutated in multiple advanced cancers 1)10Rare Single Gene Mutation, Syndromic1S43
RIT2Ras-like without CAAX 218Genetic Association43
RPS6KA3Ribosomal protein S6 kinase, 90kDa, polypeptide 3XRare Single Gene Mutation, Syndromic4S9
SETBP1SET binding protein 118Rare Single Gene Mutation, Syndromic310
SLC45A1solute carrier family 45 member 11Rare Single Gene Mutation, SyndromicS2
MBD5Methyl-CpG binding domain protein 52Rare Single Gene Mutation, Syndromic3S27
NLGN4Xneuroligin 4, X-linkedXRare Single Gene Mutation, Genetic Association328
NRXN1neurexin 12Rare Single Gene Mutation, Syndromic, Genetic Association268
NRXN2neurexin 211Rare Single Gene Mutation45
NRXN3neurexin 314Rare Single Gene Mutation, Genetic Association315
OPHN1oligophrenin 1XRare Single Gene Mutation310
RAI1retinoic acid induced 117Rare Single Gene Mutation, SyndromicS16
RELNReelin7Rare Single Gene Mutation, Syndromic, Genetic Association, Functional141
SCN1Asodium channel, voltage-gated, type I, alpha subunit2Rare Single Gene Mutation, Syndromic, Genetic Association3S40
SLC12A5Solute carrier family 12 (potassium/chloride transporter), member 5 20Rare Single Gene Mutation34
SLC1A1solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 19Rare Single Gene Mutation, Genetic Association411
SLC1A2Solute carrier family 1 (glial high affinity glutamate transporter), member 211Rare Single Gene Mutation, Genetic Association, FunctionalS6
SLC25A12solute carrier family 25 (mitochondrial carrier, Aralar), member 122Rare Single Gene Mutation, Genetic Association, Functional419
GPD2Glycerol-3-phosphate dehydrogenase 2 (mitochondrial)2Rare Single Gene Mutation, Genetic Association4
ALDH1A3Aldehyde dehydrogenase 1 family, member A315Rare Single Gene Mutation, Syndromic5
KHDRBS2KH domain containing, RNA binding, signal transduction associated 26Rare Single Gene Mutation42
MAOAmonoamine oxidase AXRare Single Gene Mutation, Syndromic, Genetic Association413
MEF2Cmyocyte enhancer factor 2C5Rare Single Gene Mutation, Syndromic, Functional4S25
MTORMechanistic target of rapamycin (serine/threonine kinase)1Rare Single Gene Mutation, Functional311
MYT1LMyelin transcription factor 1-like2Rare Single Gene Mutation, Syndromic, Genetic Association114
NLGN1neuroligin 13Rare Single Gene Mutation, Genetic Association416
NSD1nuclear receptor binding SET domain protein 15Rare Single Gene Mutation, SyndromicS12
NXPH1neurexophilin 17Rare Single Gene Mutation44
OXToxytocin/neurophysin I prepropeptide20Genetic Association44
PCDH19protocadherin 19XRare Single Gene Mutation, SyndromicS18
PHIPpleckstrin homology domain interacting protein6Rare Single Gene Mutation46
PTCHD1patched domain containing 1XRare Single Gene Mutation, Genetic Association211
SATB2SATB homeobox 22Rare Single Gene Mutation, Syndromic4S17
SCN9Asodium voltage-gated channel alpha subunit 92Rare Single Gene Mutation25
SEMA5Asema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A5Rare Single Gene Mutation, Genetic Association, Functional315
SGSHN-sulfoglucosamine sulfohydrolase17SyndromicS4
SLC4A10solute carrier family 4, sodium bicarbonate transporter-like, member 102Rare Single Gene Mutation, Genetic Association46
SMARCA2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 29Rare Single Gene Mutation, Syndromic, Genetic AssociationS11
SOX5SRY (sex determining region Y)-box 512Rare Single Gene MutationS9
CSMD1CUB and Sushi multiple domains 18Rare Single Gene Mutation, Genetic Association9
ACY1Aminoacylase 13Syndromic5
CNTN3contactin 3 (plasmacytoma associated)3Rare Single Gene Mutation5
DEPDC5DEP domain containing 522Rare Single Gene Mutation, Syndromic3
MAGEL2MAGE-like 215Rare Single Gene Mutation, Syndromic2S9
MED12mediator complex subunit 12XRare Single Gene Mutation, Syndromic, Genetic Association618
PAHPhenylalanine hydroxylase12Rare Single Gene Mutation, Syndromic32
PARK2Parkinson disease (autosomal recessive, juvenile) 2, parkin6Rare Single Gene Mutation, Genetic Association314
PCCApropionyl-CoA carboxylase alpha subunit13SyndromicS9
PCCBpropionyl-CoA carboxylase beta subunit3SyndromicS7
PLCB1phospholipase C, beta 1 (phosphoinositide-specific)20Rare Single Gene Mutation37
PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D17Rare Single Gene Mutation, SyndromicS2
PSD3pleckstrin and Sec7 domain containing 38Rare Single Gene Mutation44
PTPN11protein tyrosine phosphatase, non-receptor type 1112Rare Single Gene Mutation, Syndromic4S9
RBFOX1RNA binding protein, fox-1 homolog (C. elegans) 116Rare Single Gene Mutation, Genetic Association332
REREArginine-glutamic acid dipeptide (RE) repeats1Rare Single Gene Mutation, Syndromic4S4
RORARAR-related orphan receptor A15Rare Single Gene Mutation, Functional515
RPL10ribosomal protein L10XRare Single Gene Mutation, Syndromic411
SETD2SET domain containing 23Rare Single Gene Mutation39
SETD5SET domain containing 53Rare Single Gene Mutation, Syndromic1S16
SETDB2SET domain, bifurcated 213Rare Single Gene Mutation, Syndromic42
SLC16A7Solute carrier family 16, member 7 (monocarboxylic acid transporter 2)12Rare Single Gene Mutation51
SLC6A1Solute carrier family 6 (neurotransmitter transporter), member 13Rare Single Gene Mutation, Genetic Association214
SLC6A4solute carrier family 6 (neurotransmitter transporter, serotonin), member 417Rare Single Gene Mutation, Genetic Association425
SLC9A6solute carrier family 9 (sodium/hydrogen exchanger), member 6XRare Single Gene Mutation, Syndromic, FunctionalS11
SLC9A9solute carrier family 9 (sodium/hydrogen exchanger), member 93Rare Single Gene Mutation, Genetic Association, Functional410
KCND2Potassium voltage-gated channel, Shal-related subfamily, member 27Rare Single Gene Mutation, Genetic Association4
CD38CD38 molecule4Genetic Association, Functional6
CACNA1ACalcium channel, voltage-dependent, P/Q type, alpha 1A subunit19Rare Single Gene Mutation, Genetic Association10
DCXdoublecortex, lissencephaly, X-linked (doublecortin)XRare Single Gene Mutation7
CMIPc-Maf inducing protein16Rare Single Gene Mutation, Genetic Association6
FAN1FANCD2/FANCI-associated nuclease 115Rare Single Gene Mutation1
KMT2ALysine (K)-specific methyltransferase 2A11Rare Single Gene Mutation, Syndromic1S12
KMT2CLysine (K)-specific methyltransferase 2C 7Rare Single Gene Mutation29
LRFN5leucine rich repeat and fibronectin type III domain containing 514Rare Single Gene Mutation, Genetic Association46
LRP2Low density lipoprotein receptor-related protein 22Rare Single Gene Mutation, Syndromic, Genetic Association411
MED13LMediator complex subunit 13-like12Rare Single Gene Mutation, Syndromic216
NIPBLNipped-B homolog (Drosophila)5Rare Single Gene Mutation, SyndromicS7
NTRK1neurotrophic tyrosine kinase, receptor, type 11Rare Single Gene Mutation, Syndromic48
PAX6Paired box 611Rare Single Gene Mutation, Syndromic, FunctionalS6
POGZPogo transposable element with ZNF domain1Rare Single Gene Mutation, Syndromic1S21
POU3F2POU class 3 homeobox 26Rare Single Gene Mutation, Functional53
PPP2R5DProtein phosphatase 2, regulatory subunit B', delta6Rare Single Gene Mutation, Syndromic4S8
PRICKLE1Prickle homolog 1 (Drosophila)12Rare Single Gene Mutation, Syndromic, Functional34
PRICKLE2Prickle homolog 2 (Drosophila)3Rare Single Gene Mutation, Functional33
SCN2Asodium channel, voltage-gated, type II, alpha subunit2Rare Single Gene Mutation, Syndromic143
SIN3ASIN3 transcription regulator family member A 15Rare Single Gene Mutation, Syndromic4S5
SLC6A8solute carrier family 6 (neurotransmitter transporter, creatine), member 8XRare Single Gene Mutation, Syndromic49
SNX14Sorting nexin 146Rare Single Gene Mutation, SyndromicS4
ADAMTS18ADAM metallopeptidase with thrombospondin type 1 motif, 1816Rare Single Gene Mutation2
DOCK10Dedicator of cytokinesis 102Rare Single Gene Mutation1
KCNJ2Potassium inwardly-rectifying channel, subfamily J, member 2 17Rare Single Gene Mutation1
GNASGNAS complex locus20Rare Single Gene Mutation5
CDH11Cadherin 11, type 2, OB-cadherin (osteoblast)16Rare Single Gene Mutation3
CYFIP1cytoplasmic FMR1 interacting protein 115Rare Single Gene Mutation, Genetic Association13
JARID2Jumonji, AT rich interactive domain 26Rare Single Gene Mutation, Syndromic, Genetic Association9
GANGigaxonin16Rare Single Gene Mutation1
KANK1KN motif and ankyrin repeat domains 19Rare Single Gene Mutation6
DOLKDolichol kinase9Syndromic1
KCNT1Potassium channel, subfamily T, member 19Rare Single Gene Mutation, Syndromic59
KDM5BLysine (K)-specific demethylase 5B1Rare Single Gene Mutation28
KDM5CLysine (K)-specific demethylase 5CXRare Single Gene Mutation, Syndromic319
KDM6BLysine (K)-specific demethylase 6B17Rare Single Gene Mutation37
MDGA2MAM domain containing glycosylphosphatidylinositol anchor 214Rare Single Gene Mutation, Genetic Association47
MTF1metal-regulatory transcription factor 11Syndromic, Genetic Association44
MTHFRmethylenetetrahydrofolate reductase (NAD(P)H)1Syndromic, Genetic Association414
NACC1nucleus accumbens associated 119Rare Single Gene Mutation, Syndromic4S3
NFIAnuclear factor I/A1Rare Single Gene Mutation48
NTRK3neurotrophic tyrosine kinase, receptor, type 315Rare Single Gene Mutation, Syndromic, Genetic Association413
PACS1phosphofurin acidic cluster sorting protein 111SyndromicS4
PCDH9protocadherin 913Rare Single Gene Mutation46
PDZD4PDZ domain containing 4XRare Single Gene Mutation53
PIK3R2Phosphoinositide-3-kinase, regulatory subunit 2 (beta)19Rare Single Gene Mutation, SyndromicS3
PRODHProline dehydrogenase (oxidase) 122Syndromic, Genetic Association3S5
RAB39BRAB39B, member RAS oncogene familyXRare Single Gene Mutation48
ROBO2Roundabout, axon guidance receptor, homolog 2 (Drosophila)3Rare Single Gene Mutation, Genetic Association, Functional38
SH3KBP1SH3-domain kinase binding protein 1XRare Single Gene Mutation54
SHANK3SH3 and multiple ankyrin repeat domains 322Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S60
ARHGAP11BRho GTPase activating protein 11B15Rare Single Gene Mutation1
HCFC1Host cell factor C1 (VP16-accessory protein)XRare Single Gene Mutation, Syndromic7
EXOC6BExocyst complex component 6B2Rare Single Gene Mutation3
BBS4Bardet-Biedl syndrome 415Rare Single Gene Mutation, Syndromic3
KCTD13Potassium channel tetramerisation domain containing 1316Rare Single Gene Mutation44
KDM4Blysine demethylase 4B19Rare Single Gene Mutation, Functional43
KDM6Alysine demethylase 6AXRare Single Gene Mutation, Syndromic25
KHDRBS3KH RNA binding domain containing, signal transduction associated 38Functional52
KIAA1586KIAA15866Rare Single Gene Mutation33
KIRREL3Kin of IRRE like 3 (Drosophila)11Rare Single Gene Mutation39
KLC2Kinesin light chain 211Rare Single Gene Mutation52
KMT2ELysine (K)-specific methyltransferase 2E7Rare Single Gene Mutation33
KMT5Blysine methyltransferase 5B11Rare Single Gene Mutation18
KRR1KRR1, small subunit (SSU) processome component, homolog (yeast)12Genetic Association41
LAMA1Laminin, alpha 118Rare Single Gene Mutation, Genetic Association45
LAMB1laminin, beta 17Rare Single Gene Mutation, Genetic Association34
LAMC3laminin, gamma 39Rare Single Gene Mutation58
LEPLeptin7Rare Single Gene Mutation41
LMX1BLIM homeobox transcription factor 1, beta9Genetic Association31
LRBALPS-responsive vesicle trafficking, beach and anchor containing 4Rare Single Gene Mutation43
LRRC1leucine rich repeat containing 16Genetic Association45
LZTR1Leucine-zipper-like transcription regulator 122Rare Single Gene Mutation32
NFIXnuclear factor I/X (CCAAT-binding transcription factor)19Rare Single Gene Mutation, SyndromicS5
PRKD1Protein kinase D114Rare Single Gene Mutation, SyndromicS4
FGAFibrinogen alpha chain4Genetic Association1
HLA-DRB1major histocompatibility complex, class II, DR beta 16Genetic Association5
APPAmyloid beta (A4) precursor protein21Functional3
FAM135BFamily with sequence similarity 135, member B8Rare Single Gene Mutation, Genetic Association2
HDAC6Histone deacetylase 6XRare Single Gene Mutation2
GABRA3Gamma-aminobutyric acid (GABA) A receptor, alpha 3XRare Single Gene Mutation1
CELF6CUGBP, Elav-like family member 615Genetic Association1
CADM2Cell adhesion molecule 23Genetic Association3
GRIK3Glutamate receptor, ionotropic, kainate 31Rare Single Gene Mutation1
DRD2Dopamine receptor D211Rare Single Gene Mutation, Genetic Association5
CECR2Cat eye syndrome chromosome region, candidate 222Rare Single Gene Mutation2
CHRM3Cholinergic receptor, muscarinic 31Rare Single Gene Mutation3
FBXO15F-box protein 1518Rare Single Gene Mutation3
CACNA1BCalcium channel, voltage-dependent, N type, alpha 1B subunit9Rare Single Gene Mutation, Genetic Association6
DLGAP3Discs, large (Drosophila) homolog-associated protein 31Rare Single Gene Mutation, Genetic Association, Functional7
DLGAP1Discs, large (Drosophila) homolog-associated protein 118Rare Single Gene Mutation5
ADORA3Adenosine A3 receptor1Rare Single Gene Mutation, Functional2
DOCK4Dedicator of cytokinesis 47Rare Single Gene Mutation, Genetic Association7
EPHB2EPH receptor B21Rare Single Gene Mutation3
DDCDopa decarboxylase (aromatic L-amino acid decarboxylase)7Genetic Association2
BCAS1Breast carcinoma amplified sequence 120Rare Single Gene Mutation2
CHRNB3Cholinergic receptor, nicotinic, beta 3 (neuronal)8Rare Single Gene Mutation1
IL16Interleukin 1615Rare Single Gene Mutation2
BIRC6Baculoviral IAP repeat containing 62Rare Single Gene Mutation5
DRD1Dopamine receptor D15Genetic Association, Functional4
DNAH10Dynein, axonemal, heavy chain 1012Rare Single Gene Mutation5
BDNFBrain-derived neurotrophic factor 11Rare Single Gene Mutation, Functional10
GSNGelsolin9Rare Single Gene Mutation1
FAT1FAT tumor suppressor homolog 1 (Drosophila)4Rare Single Gene Mutation4
INADLInaD-like (Drosophila)1Rare Single Gene Mutation2
KCNJ15Potassium inwardly-rectifying channel, subfamily J, member 1521Rare Single Gene Mutation2
DAGLADiacylglycerol lipase, alpha11Rare Single Gene Mutation, Functional2
FERFer (fps/fes related) tyrosine kinase5Genetic Association1
ANKS1BAnkyrin repeat and sterile alpha motif domain containing 1B12Rare Single Gene Mutation1
GDAGuanine deaminase9Rare Single Gene Mutation, Genetic Association2
CNTNAP3contactin associated protein-like 39Rare Single Gene Mutation1
DGKZDiacylglycerol kinase, zeta11Rare Single Gene Mutation2
KCNJ12Potassium inwardly-rectifying channel, subfamily J, member 1217Rare Single Gene Mutation1
ACTN4Actinin, alpha 419Rare Single Gene Mutation3
LZTS2leucine zipper, putative tumor suppressor 210Genetic Association44
MAGED1Melanoma antigen family D, 1XFunctional51
MALmal, T-cell differentiation protein2Functional52
MAP2microtubule-associated protein 22Rare Single Gene Mutation, Functional55
MAPK1Mitogen-activated protein kinase 122Rare Single Gene Mutation, Functional52
MAPK3mitogen-activated protein kinase 316Rare Single Gene Mutation43
MAPK8IP2Mitogen-activated protein kinase 8 interacting protein 222Functional51
MARK1MAP/microtubule 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
MCM4minichromosome maintenance complex component 4 8Rare Single Gene Mutation42
MCPH1microcephalin 18Rare Single Gene Mutation413
MED13mediator complex subunit 1317Rare Single Gene Mutation23
MEGF10multiple EGF like domains 105Genetic Association44
METmet proto-oncogene (hepatocyte growth factor receptor)7Rare Single Gene Mutation, Genetic Association, Functional234
MFRPMembrane frizzled-related protein 11Rare Single Gene Mutation34
MIB1Mindbomb E3 ubiquitin protein ligase 118Rare Single Gene Mutation43
MKL2MKL/myocardin-like 216Rare Single Gene Mutation, Genetic Association48
MNTMAX network transcriptional repressor17Genetic Association41
MOCOSMolybdenum cofactor sulfurase18Rare Single Gene Mutation, Functional52
MSNP1ASMoesin pseudogene 1, antisense5Genetic Association, Functional211
MSR1macrophage scavenger receptor 18Rare Single Gene Mutation42
MTR5-methyltetrahydrofolate-homocysteine methyltransferase1Rare Single Gene Mutation, Functional55
MTX2Metaxin 22Functional51
MYH4Myosin, heavy chain 4, skeletal muscle17Rare Single Gene Mutation43
MYO16myosin XVI13Rare Single Gene Mutation, Genetic Association47
MYO1Amyosin IA12Rare Single Gene Mutation57
MYO5Amyosin VA15Rare Single Gene Mutation, Genetic Association34
MYO9BMyosin IXB19Rare Single Gene Mutation32
NAA15N(alpha)-acetyltransferase 15, NatA auxiliary subunit 4Rare Single Gene Mutation15
NAALADL2N-acetylated alpha-linked acidic dipeptidase-like 2 3Genetic Association41
NAV2neuron navigator 211Rare Single Gene Mutation37
NBEAneurobeachin13Rare Single Gene Mutation48
NCKAP1NCK-associated protein 12Rare Single Gene Mutation26
NCKAP5NCK-associated protein 52Rare Single Gene Mutation41
NCKAP5LNCK-associated protein 5-like12Rare Single Gene Mutation52
NCOR1nuclear receptor corepressor 117Rare Single Gene Mutation43
NDNL2necdin-like 215Functional43
NDUFA5NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa7Genetic Association43
NEFLNeurofilament, light polypeptide8Rare Single Gene Mutation, Genetic Association52
NEO1Neogenin 11541
NINLNinein-like 20Rare Single Gene Mutation33
NLGN3neuroligin 3XRare Single Gene Mutation232
NLGN4Yneuroligin 4, Y-linkedYGenetic Association43
NOS1APnitric oxide synthase 1 (neuronal) adaptor protein1Rare Single Gene Mutation56
NOS2Anitric oxide synthase 2A (inducible, hepatocytes)17Genetic Association56
NPAS2neuronal PAS domain protein 22Genetic Association44
NR1D1nuclear receptor subfamily 1 group D member 117Rare Single Gene Mutation43
NR3C2Nuclear receptor subfamily 3, group C, member 24Rare Single Gene Mutation33
NRCAMneuronal cell adhesion molecule7Rare Single Gene Mutation, Genetic Association45
NRG1Neuregulin 18Functional54
NRP2neuropilin 22Rare Single Gene Mutation, Genetic Association47
NTNG1netrin G11Rare Single Gene Mutation, Syndromic, Genetic Association4S8
NUAK1NUAK family, SNF1-like kinase, 112Rare Single Gene Mutation35
NUP133nucleoporin 133kDa1Rare Single Gene Mutation44
OCRLoculocerebrorenal syndrome of LoweXSyndromicS4
ODF3L2outer dense fiber of sperm tails 3-like 219Rare Single Gene Mutation41
OPRM1opioid receptor, mu 16Functional54
OR1C1olfactory receptor, family 1, subfamily C, member 11Rare Single Gene Mutation42
OR2M4Olfactory receptor, family 2, subfamily M, member 41Genetic Association41
OR2T10olfactory receptor family 2 subfamily T member 10 1Rare Single Gene Mutation43
OR52M1Olfactory receptor, family 52, subfamily M, member 1 11Rare Single Gene Mutation32
OTX1Orthodenticle homeobox 12Genetic Association43
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
PAFAH1B1Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)17Functional52
PARD3BPar-3 partitioning defective 3 homolog B (C. elegans)2Rare Single Gene Mutation, Genetic Association36
PAX5Paired box 59Rare Single Gene Mutation34
PCDH10protocadherin 104Rare Single Gene Mutation47
PCDH11Xprotocadherin 11 X-linkedXRare Single Gene Mutation42
PCDH15Protocadherin-related 1510Rare Single Gene Mutation, Genetic Association44
PCDHGA11protocadherin gamma subfamily A, 115Rare Single Gene Mutation51
PDE4Bphosphodiesterase 4B, cAMP-specific1Rare Single Gene Mutation, Functional54
PECRperoxisomal trans-2-enoyl-CoA reductase2Rare Single Gene Mutation52
PER1period homolog 1 (Drosophila)17Rare Single Gene Mutation, Genetic Association45
PER2period circadian clock 22Rare Single Gene Mutation32
PGLYRP2peptidoglycan recognition protein 219Rare Single Gene Mutation, Functional52
PHBprohibitin17Genetic Association31
PHF2PHD finger protein 29Rare Single Gene Mutation35
PHF3PHD finger protein 36Rare Single Gene Mutation22
PHRF1PHD and ring finger domains 1 11Rare Single Gene Mutation34
PINX1PIN2/TERF1 interacting, telomerase inhibitor 18Rare Single Gene Mutation55
PITX1paired-like homeodomain 15Rare Single Gene Mutation, Genetic Association46
PLCD1phospholipase C, delta 13Rare Single Gene Mutation59
PLNphospholamban6Rare Single Gene Mutation44
PLXNA4Plexin A47Rare Single Gene Mutation, Functional33
PLXNB1plexin B13Rare Single Gene Mutation33
PON1paraoxonase 17Genetic Association35
PPP1R1BProtein phosphatase 1, regulatory (inhibitor) subunit 1B17Genetic Association41
PPP2R1Bprotein phosphatase 2 regulatory subunit A, beta11Rare Single Gene Mutation44
PREX1Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 20Genetic Association31
PRKCBprotein kinase C, beta16Genetic Association34
PTBP2polypyrimidine tract binding protein 21Rare Single Gene Mutation43
PTGS2prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxyge nase)1Genetic Association45
PTK7Protein tyrosine kinase 7 (inactive) 6Rare Single Gene Mutation34
PYHIN1Pyrin and HIN domain family, member 11Rare Single Gene Mutation34
RAB2ARAB2A, member RAS oncogene family8Rare Single Gene Mutation36
RANBP17RAN binding protein 175Rare Single Gene Mutation23
RAPGEF4Rap guanine nucleotide exchange factor (GEF) 42Rare Single Gene Mutation414
RB1CC1RB1-inducible coiled-coil 18Rare Single Gene Mutation54
RBMS3RNA binding motif, single stranded interacting protein 33Rare Single Gene Mutation52
REEP3receptor accessory protein 310Rare Single Gene Mutation43
RFWD2ring finger and WD repeat domain 21Rare Single Gene Mutation, Genetic Association59
RGS7regulator of G-protein signaling 71Rare Single Gene Mutation46
RHOXF1Rhox homeobox family, member 1XGenetic Association43
RIMS1Regulating synaptic membrane exocytosis 16Rare Single Gene Mutation23
RIMS3regulating synaptic membrane exocytosis 31Rare Single Gene Mutation44
RNF135Ring finger protein 135 17Syndromic, Genetic Association4S2
ROBO1roundabout, axon guidance receptor, homolog 1 (Drosophila)3Rare Single Gene Mutation, Functional510
RPS6KA2ribosomal protein S6 kinase, 90kDa, polypeptide 26Rare Single Gene Mutation43
SCFD2sec1 family domain containing 24Rare Single Gene Mutation42
SCN4ASodium channel, voltage gated, type IV alpha subunit 17Rare Single Gene Mutation42
SDC2syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated, fibroglycan )8Rare Single Gene Mutation, Genetic Association44
SETDB1SET domain, bifurcated 11Rare Single Gene Mutation42
SEZ6L2SEZ6L2 seizure related 6 homolog (mouse)-like 216Rare Single Gene Mutation, Genetic Association45
SGSM3Small G protein signaling modulator 322Rare Single Gene Mutation43
SHANK1SH3 and multiple ankyrin repeat domains 119Rare Single Gene Mutation35
SHOXshort stature homeoboxX,YRare Single Gene Mutation32
SLC16A3solute carrier family 16, member 3 (monocarboxylic acid transporter 4)17Rare Single Gene Mutation62
SLC22A15Solute carrier family 22, member 151Genetic Association41
SLC22A9solute carrier family 22 member 911Rare Single Gene Mutation43
SLC25A14Solute carrier family 25 (mitochondrial carrier, brain), member 14XFunctional51
SLC25A24Solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 241Rare Single Gene Mutation, Functional52
SLC27A4Solute carrier family 27 (fatty acid transporter), member 4 9Rare Single Gene Mutation41
SLC30A3solute carrier family 30 member 32Functional52
SLC30A5solute carrier family 305Rare Single Gene Mutation53
SLC33A1solute carrier family 33 member 13Functional54
SLC35B1solute carrier family 35 member B117Genetic Association31
SLC38A10solute carrier family 38, member 1017Rare Single Gene Mutation31
SLC6A3Solute carrier family 6 (neurotransmitter transporter), member 35Rare Single Gene Mutation, Genetic Association311
SLC7A3Solute carrier family 7 (cationic amino acid transporter, y+ system), member 3XRare Single Gene Mutation32
SLC7A5solute carrier family 7 member 516Functional31
SMC3structural maintenance of chromosomes 3 10Rare Single Gene Mutation44
SND1staphylococcal nuclease and tudor domain containing 17Rare Single Gene Mutation, Genetic Association48
SNRPNsmall nuclear ribonucleoprotein polypeptide N15Rare Single Gene Mutation55
SNTG2Syntrophin, gamma 22Rare Single Gene Mutation45
TBR1T-box, brain, 12Rare Single Gene Mutation, Genetic Association118
TCF4Transcription factor 418Rare Single Gene Mutation, Syndromic, Genetic AssociationS31
TPH2tryptophan hydroxylase 212Rare Single Gene Mutation, Genetic Association612
TRIP12Thyroid hormone receptor interactor 122Rare Single Gene Mutation, Syndromic1S12
TSC1tuberous sclerosis 19Rare Single Gene Mutation, SyndromicS16
TSC2tuberous sclerosis 216Rare Single Gene Mutation, Syndromic, Genetic AssociationS23
TTNtitin2Rare Single Gene Mutation, Syndromic414
UBL7ubiquitin-like 7 (bone marrow stromal cell-derived)15Rare Single Gene Mutation61
USP7Ubiquitin specific peptidase 7 (herpes virus-associated) 16Rare Single Gene Mutation, Syndromic26
WDFY3WD repeat and FYVE domain containing 34Rare Single Gene Mutation, Functional211
ZNF462Zinc finger protein 4629Rare Single Gene Mutation, Syndromic4S6
NIPA2non imprinted in Prader-Willi/Angelman syndrome 215Rare Single Gene Mutation2
SMG6Smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)17Rare Single Gene Mutation2
PTGER3Prostaglandin E receptor 3 (subtype EP3)1Rare Single Gene Mutation1
NIPA1non imprinted in Prader-Willi/Angelman syndrome 115Rare Single Gene Mutation3
SLITRK5SLIT and NTRK-like family, member 513Rare Single Gene Mutation, Functional8
XPCxeroderma pigmentosum, complementation group C3Rare Single Gene Mutation, Syndromic8
TUBGCP5tubulin, gamma complex associated protein 515Rare Single Gene Mutation4
SCN8Asodium channel, voltage gated, type VIII, alpha subunit12Rare Single Gene Mutation, Syndromic20
KPTNKaptin (actin binding protein)19Rare Single Gene Mutation3
STXBP1Syntaxin binding protein 19Rare Single Gene Mutation, Syndromic3S24
SYN1Synapsin 1XRare Single Gene Mutation, Functional416
SYNGAP1synaptic Ras GTPase activating protein 16Rare Single Gene Mutation, Syndromic1S38
TBL1XR1Transducin (beta)-like 1 X-linked receptor 13Rare Single Gene Mutation211
TBX1T-box 122Syndromic41
TNIP2TNFAIP3 interacting protein 24Rare Single Gene Mutation51
TRIOTrio Rho guanine nucleotide exchange factor 5Rare Single Gene Mutation315
UNC80unc-80 homolog, NALCN activator2Rare Single Gene Mutation43
UPF2UPF2 regulator of nonsense transcripts homolog (yeast)10Rare Single Gene Mutation54
WACWW domain containing adaptor with coiled-coil10Rare Single Gene Mutation, Syndromic2S13
WNK3WNK lysine deficient protein kinase 3XRare Single Gene Mutation46
WNT2wingless-type MMTV integration site family member 27Rare Single Gene Mutation, Genetic Association510
YY1YY1 transcription factor14Syndromic, FunctionalS3
ZBTB20Zinc finger and BTB domain containing 203Rare Single Gene Mutation, Syndromic3S16
ZMYND11Zinc finger, MYND-type containing 1110Rare Single Gene Mutation, Syndromic38
RNPS1RNA binding protein S1, serine-rich domain161
MAOBMonoamine oxidase BXGenetic Association3
NLGN2Neuroligin 217Rare Single Gene Mutation, Functional5
MCCmutated in colorectal cancers5Rare Single Gene Mutation4
KIF5CKinesin family member 5C2Rare Single Gene Mutation, Syndromic2
KITV-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog4Syndromic1
TM4SF20Transmembrane 4 L six family member 202Rare Single Gene Mutation1
ST8SIA2ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 215Rare Single Gene Mutation, Genetic Association7
PHF8PHD finger protein 8XRare Single Gene Mutation, Syndromic7
SYN2Synapsin II3Rare Single Gene Mutation, Genetic Association, Functional6
SIK1Salt-inducible kinase 121Rare Single Gene Mutation5
RBM8ARNA binding motif protein 8A1Rare Single Gene Mutation, Functional5
SNX19Sorting nexin 1911Rare Single Gene Mutation2
ZNF804AZinc finger protein 804A2Rare Single Gene Mutation, Genetic Association10
PRUNE2prune homolog 2 (Drosophila)9Rare Single Gene Mutation, Syndromic6
SPARCL1SPARC like 14Rare Single Gene Mutation, Functional33
SPASTSpastin2Rare Single Gene Mutation28
SRCAPSnf2 related CREBBP activator protein16Rare Single Gene Mutation25
SRGAP3SLIT-ROBO Rho GTPase activating protein 33Rare Single Gene Mutation43
SRRM4Serine/arginine repetitive matrix 412Rare Single Gene Mutation, Functional55
SRSF11serine and arginine rich splicing factor 11 1Rare Single Gene Mutation22
SSPOSCO-spondin 7Rare Single Gene Mutation43
ST7suppression of tumorigenicity 77Rare Single Gene Mutation44
STAG1stromal antigen 13SyndromicS1
STAT1signal transducer and activator of transcription 12Rare Single Gene Mutation, Functional52
STK39serine threonine kinase 39 (STE20/SPS1 homolog, yeast)2Genetic Association45
STXBP5Syntaxin binding protein 5 (tomosyn) 6Rare Single Gene Mutation36
STYK1Serine/threonine/tyrosine kinase 112Genetic Association41
SUCLG2succinate-CoA ligase, GDP-forming, beta subunit3Rare Single Gene Mutation64
SYN3Synapsin III22Rare Single Gene Mutation, Functional52
SYNE1spectrin repeat containing, nuclear envelope 16Rare Single Gene Mutation, Genetic Association4S14
SYT17synaptotagmin XVII16Genetic Association42
TAF1TATA-box binding protein associated factor 1XRare Single Gene Mutation, SyndromicS3
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 2 17Rare Single Gene Mutation43
TBC1D5TBC1 domain family, member 53Rare Single Gene Mutation46
TBL1Xtransducin (beta)-like 1X-linkedXGenetic Association41
TCF20Transcription factor 20 (AR1)22Rare Single Gene Mutation28
TCF7L2Transcription factor 7-like 2 (T-cell specific, HMG-box)10Rare Single Gene Mutation32
TDO2tryptophan 2,3-dioxygenase4Genetic Association44
TERF2Telomeric repeat binding factor 216Rare Single Gene Mutation33
TERTtelomerase reverse transcriptase 5Rare Single Gene Mutation, Functional52
TGM3transglutaminase 320Rare Single Gene Mutation65
TMLHEtrimethyllysine hydroxylase, epsilonXRare Single Gene Mutation, Genetic Association35
TSPAN7tetraspanin 7XRare Single Gene Mutation47
UBE3Aubiquitin protein ligase E3A15Rare Single Gene Mutation, Syndromic, Genetic Association3S24
UBE3Bubiquitin protein ligase E3B12Rare Single Gene Mutation, Syndromic55
UPF3BUPF3 regulator of nonsense transcripts homolog B (yeast)XRare Single Gene Mutation, Syndromic2S11
VPS13Bvacuolar protein sorting 13 homolog B (yeast)8Rare Single Gene Mutation, SyndromicS16
WWOXWW domain containing oxidoreductase16Rare Single Gene Mutation37
SLC35A3Solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A31Rare Single Gene Mutation2
NXF5Nuclear RNA export factor 5XRare Single Gene Mutation, Functional4
TMEM231Transmembrane protein 23116Rare Single Gene Mutation, Syndromic2
TNNTenascin N1Rare Single Gene Mutation3
PCDH8protocadherin 813Rare Single Gene Mutation1
PTPRTprotein tyrosine phosphatase, receptor type, T20Rare Single Gene Mutation8
SERPINE1Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 17Genetic Association2
SDK1Sidekick cell adhesion molecule 17Rare Single Gene Mutation, Genetic Association4
PDE4Aphosphodiesterase 4A, cAMP-specific19Rare Single Gene Mutation, Functional2
TAF1CTATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa16Rare Single Gene Mutation, Genetic Association2
RAB11FIP5RAB11 family interacting protein 52Rare Single Gene Mutation4
PDE1Cphosphodiesterase 1C, calmodulin-dependent 70kDa7Rare Single Gene Mutation, Genetic Association2
SLIT3Slit homolog 3 (Drosophila)5Rare Single Gene Mutation2
NOS1Nitric oxide synthase 1 (neuronal)12Rare Single Gene Mutation2
THAP8THAP domain containing 819Rare Single Gene Mutation1
TET2Tet methylcytosine dioxygenase 24Rare Single Gene Mutation3
TLK2tousled-like kinase 217Rare Single Gene Mutation57
TNRC6BTrinucleotide repeat containing 6B22Rare Single Gene Mutation25
TOMM20Translocase of outer mitochondrial membrane 20 homolog (yeast)1Functional51
TOP1Topoisomerase (DNA) I20Rare Single Gene Mutation, Functional56
TOP3BTopoisomerase (DNA) III beta22Rare Single Gene Mutation, Genetic Association, Functional45
TRPC6Transient receptor potential cation channel, subfamily C, member 6 11Rare Single Gene Mutation32
TRPM1Transient receptor potential cation channel, subfamily M, member 115Rare Single Gene Mutation33
TSHZ3teashirt zinc finger homeobox 319Rare Single Gene Mutation42
TTC25tetratricopeptide repeat domain 2517Genetic Association41
UBA6Ubiquitin-like modifier activating enzyme 64Functional52
UBE2Hubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)7Genetic Association42
UBE3CUbiquitin protein ligase E3C7Rare Single Gene Mutation34
UBN2ubinuclein 27Rare Single Gene Mutation23
UBR5Ubiquitin protein ligase E3 component n-recognin 58Rare Single Gene Mutation35
PLAURPlasminogen activator, urokinase receptor19Genetic Association1
SNAP25Synaptosomal-associated protein, 25kDa20Rare Single Gene Mutation, Genetic Association5
SYT3synaptotagmin III19Rare Single Gene Mutation1
SLC29A4Solute carrier family 29 (equilibrative nucleoside transporter), member 47Rare Single Gene Mutation1
SLC24A2Solute carrier family 24 (sodium/potassium/calcium exchanger), member 29Rare Single Gene Mutation2
RPP25Ribonuclease P/MRP 25kDa subunit15Functional1
SCN5ASodium channel, voltage-gated, type V, alpha subunit3Rare Single Gene Mutation2
TBC1D7TBC1 domain family, member 76Rare Single Gene Mutation, Functional4
RAB19RAB19, member RAS oncogene family7Rare Single Gene Mutation1
PCDHA7Protocadherin alpha 75Rare Single Gene Mutation, Genetic Association3
OGTO-linked N-acetylglucosamine (GlcNAc) transferaseXRare Single Gene Mutation, Functional4
PTPRBProtein Tyrosine Phosphatase, Receptor Type, B12Rare Single Gene Mutation, Genetic Association3
LRP2BPLRP2 binding protein4Rare Single Gene Mutation1
KIF13BKinesin family member 13B8Rare Single Gene Mutation3
MC4RMelanocortin 4 receptor18Functional2
RLIMRing finger protein, LIM domain interactingXRare Single Gene Mutation, Syndromic2
LIN7BLin-7 homolog B (C. elegans)191
LRRC7Leucine rich repeat containing 71Rare Single Gene Mutation, Functional2
SLC25A27Solute carrier family 25, member 276Genetic Association1
THRAThyroid hormone receptor, alpha17Rare Single Gene Mutation, Functional2
PPFIA1Protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 111Rare Single Gene Mutation2
RAB43RAB43, member RAS oncogene family3Rare Single Gene Mutation2
PCDHAC2Protocadherin alpha subfamily C, 25Genetic Association3
PCDHAC1Protocadherin alpha subfamily C, 15Genetic Association2
PCDHA12Protocadherin alpha 125Rare Single Gene Mutation, Genetic Association3
PCDHA13Protocadherin alpha 135Rare Single Gene Mutation, Genetic Association4
STX1ASyntaxin 1A (brain)7Rare Single Gene Mutation, Genetic Association6
KMOKynurenine 3-monooxygenase (kynurenine 3-hydroxylase)1Functional1
PCDHA10Protocadherin alpha 105Rare Single Gene Mutation, Genetic Association3
PCDHA11Protocadherin alpha 115Rare Single Gene Mutation, Genetic Association4
MPP6Membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)7Rare Single Gene Mutation3
SLCO1B3Solute carrier organic anion transporter family, member 1B3 12Rare Single Gene Mutation2
PCDHA2Protocadherin alpha 25Rare Single Gene Mutation, Genetic Association4
PCDHA3Protocadherin alpha 35Rare Single Gene Mutation, Genetic Association3
PCDHA1Protocadherin alpha 15Rare Single Gene Mutation, Genetic Association3
PCDHA6Protocadherin alpha 65Rare Single Gene Mutation, Genetic Association3
PCDHA4Protocadherin alpha 45Rare Single Gene Mutation, Genetic Association3
PCDHA5Protocadherin alpha 55Rare Single Gene Mutation, Genetic Association5
PCDHA8Protocadherin alpha 85Rare Single Gene Mutation, Genetic Association3
PCDHA9Protocadherin alpha 95Rare Single Gene Mutation, Genetic Association4
LPLLipoprotein lipase8Rare Single Gene Mutation1
LRPPRCLeucine-rich pentatricopeptide repeat containing2Rare Single Gene Mutation, Functional3
SYAP1Synapse associated protein 1XRare Single Gene Mutation2
SLC39A11Solute carrier family 39 (metal ion transporter), member 1117Genetic Association1
SOD1Superoxide dismutase 1, soluble21Genetic Association, Functional2
RASD1RAS, dexamethasone-induced 117Functional1
RASSF5Ras association (RalGDS/AF-6) domain family member 51Rare Single Gene Mutation, Genetic Association2
THBS1Thrombospondin 115Genetic Association1
PRSS38Protease, serine, 381Rare Single Gene Mutation, Genetic Association3
NELL1NEL-like 1 (chicken)11Rare Single Gene Mutation, Genetic Association2
PEX7peroxisomal biogenesis factor 76Rare Single Gene Mutation, Genetic Association3
POMGNT1Protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase1Rare Single Gene Mutation, Syndromic2
RBM27RNA binding motif protein 275Rare Single Gene Mutation2
PXDNPeroxidasin homolog (Drosophila)2Rare Single Gene Mutation3
SCN7ASodium channel, voltage-gated, type VII, alpha subunit2Rare Single Gene Mutation3
POT1Protection of telomeres 1 homolog (S. pombe)7Rare Single Gene Mutation1
MAPK12Mitogen-activated protein kinase 1222Rare Single Gene Mutation1
SRD5A2Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)2Rare Single Gene Mutation, Genetic Association3
MBD6Methyl-CpG binding domain protein 612Rare Single Gene Mutation1
TBC1D31TBC1 domain family, member 318Rare Single Gene Mutation2
SAE1SUMO1 activating enzyme subunit 119Rare Single Gene Mutation3
THtyrosine hydroxylase11Rare Single Gene Mutation, Genetic Association7
PTPRCprotein tyrosine phosphatase, receptor type, C1Rare Single Gene Mutation, Genetic Association8
MYOZ1Myozenin 110Rare Single Gene Mutation1
UBR7ubiquitin protein ligase E3 component n-recognin 7 (putative)14Rare Single Gene Mutation51
UCN3urocortin 310Functional51
UNC13Aunc-13 homolog A19Rare Single Gene Mutation, Syndromic4S3
USP15ubiquitin specific peptidase 1512Rare Single Gene Mutation32
USP45Ubiquitin specific peptidase 456Rare Single Gene Mutation32
VASH1vasohibin 114Genetic Association44
VIL1Villin 12Rare Single Gene Mutation31
VLDLRVery low density lipoprotein receptor9Functional53
VSIG4V-set and immunoglobulin domain containing 4XRare Single Gene Mutation42
WDR93WD repeat domain 9315Rare Single Gene Mutation51
XIRP1xin actin-binding repeat containing 13Rare Single Gene Mutation66
XPO1Exportin 1 (CRM1 homolog, yeast)2Genetic Association43
YWHAETyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide17Rare Single Gene Mutation45
ZC3H4zinc finger CCCH-type containing 419Rare Single Gene Mutation32
ZNF292zinc finger protein 2926Rare Single Gene Mutation42
ZNF559Zinc finger protein 559 19Rare Single Gene Mutation43
ZNF713Zinc finger protein 7137Rare Single Gene Mutation41
ZNF8Zinc finger protein 819Rare Single Gene Mutation51
ZSWIM5zinc finger, SWIM-type containing 51Rare Single Gene Mutation61
ZWILCHzwilch kinetochore protein15Rare Single Gene Mutation43
TTI2TELO2 interacting protein 28Rare Single Gene Mutation1
ZNF18zinc finger protein 1817Rare Single Gene Mutation1
TPOThyroid peroxidase2Genetic Association1
YEATS2YEATS domain containing 23Genetic Association1
VIPVasoactive intestinal peptide6Rare Single Gene Mutation, Functional6
TYRTyrosinase (oculocutaneous albinism IA)11Rare Single Gene Mutation, Functional3
WNT1Wingless-type MMTV integration site family, member 112Genetic Association3
ZBTB16Zinc finger and BTB domain containing 1611Genetic Association1
ZNF774Zinc finger protein 77415Rare Single Gene Mutation2
UTRNUtrophin6Rare Single Gene Mutation1
ZNF517Zinc finger protein 5178Rare Single Gene Mutation2
ZNF385BZinc finger protein 385B 2Genetic Association2
ZNF407Zinc finger protein 40718Rare Single Gene Mutation, Syndromic5
USP9Yubiquitin specific peptidase 9, Y-linkedYRare Single Gene Mutation, Genetic Association2
UPB1Ureidopropionase, beta22Rare Single Gene Mutation1
TRIM33Tripartite motif containing 331Genetic Association1
ZNF827Zinc finger protein 8274Genetic Association1
YTHDC2YTH domain containing 25Rare Single Gene Mutation, Genetic Association4
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