Human Gene Module 831 total genes

Database updated on June 20, 2019

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Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic reports
ABAT4-aminobutyrate aminotransferase16Rare Single Gene Mutation, Genetic Association35
ABCA10ATP-binding cassette, sub-family A (ABC1), member 1017Rare Single Gene Mutation31
ABCA13ATP binding cassette subfamily A member 137Rare Single Gene Mutation, Functional36
ABCA7ATP-binding cassette, sub-family A (ABC1), member 719Rare Single Gene Mutation33
ACEangiotensin I converting enzyme17Rare Single Gene Mutation, Genetic Association33
ACHEAcetylcholinesterase (Yt blood group)7Rare Single Gene Mutation24
ACTN4actinin alpha 419Rare Single Gene Mutation34
ADAadenosine deaminase20Rare Single Gene Mutation, Genetic Association27
ADCY3adenylate cyclase 32Rare Single Gene Mutation22
ADCY5Adenylate cyclase 53Rare Single Gene Mutation36
ADKadenosine kinase10Rare Single Gene Mutation32
ADNPActivity-dependent neuroprotector homeobox20Rare Single Gene Mutation, Syndromic, Functional137
ADORA3Adenosine A3 receptor1Rare Single Gene Mutation, Functional32
ADSLadenylosuccinate lyase22Rare Single Gene Mutation, Syndromic16
AFF2AF4/FMR2 family, member 2XRare Single Gene Mutation, Syndromic115
AGAP1ArfGAP with GTPase domain, ankyrin repeat and PH domain 12Rare Single Gene Mutation38
AGAP2ArfGAP with GTPase domain, ankyrin repeat and PH domain 212Rare Single Gene Mutation24
AGBL4ATP/GTP binding protein-like 41Rare Single Gene Mutation33
AGMOalkylglycerol monooxygenase7Rare Single Gene Mutation, Genetic Association36
AGO1argonaute 1, RISC catalytic component1Rare Single Gene Mutation27
AGO3argonaute RISC catalytic component 31Rare Single Gene Mutation34
AGO4argonaute RISC catalytic component 41Rare Single Gene Mutation23
AGTR2angiotensin II receptor, type 2XRare Single Gene Mutation33
AHDC1AT-hook DNA binding motif containing 11Rare Single Gene Mutation, Syndromic111
AKAP9A kinase (PRKA) anchor protein 97Rare Single Gene Mutation25
ALDH5A1aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase )6Rare Single Gene Mutation, Syndromic110
ADSS2adenylosuccinate synthase 21Rare Single Gene Mutation33
AMPD1Adenosine monophosphate deaminase 11Rare Single Gene Mutation, Genetic Association23
AMTAminomethyltransferase3Rare Single Gene Mutation21
ANK2Ankyrin 2, neuronal4Rare Single Gene Mutation113
ANK3ankyrin 310Rare Single Gene Mutation, Genetic Association125
ANKRD11ankyrin repeat domain 1116Rare Single Gene Mutation, Syndromic143
ANKS1Bankyrin repeat and sterile alpha motif domain containing 1B12Rare Single Gene Mutation, Syndromic3S2
ANXA1Annexin A19Rare Single Gene Mutation22
APBA2amyloid beta (A4) precursor protein-binding, family A, member 215Rare Single Gene Mutation37
APBB1amyloid beta precursor protein binding family B member 111Rare Single Gene Mutation, Functional23
APH1AAPH1A gamma secretase subunit1Rare Single Gene Mutation22
ARHGAP11BRho GTPase activating protein 11B15Rare Single Gene Mutation32
ARHGAP32Rho GTPase activating protein 3211Rare Single Gene Mutation, Functional37
ARHGAP5Rho GTPase activating protein 514Rare Single Gene Mutation34
ARHGEF10Rho guanine nucleotide exchange factor 108Rare Single Gene Mutation, Functional34
ARHGEF9Cdc42 guanine nucleotide exchange factor (GEF) 9XRare Single Gene Mutation, Syndromic110
ARID1BAT-rich interaction domain 1B6Rare Single Gene Mutation, Syndromic142
ARID2AT-rich interaction domain 212Rare Single Gene Mutation, Syndromic3S6
ARNT2aryl-hydrocarbon receptor nuclear translocator 215Rare Single Gene Mutation, Syndromic, Genetic Association311
ARXaristaless related homeoboxXRare Single Gene Mutation, Syndromic117
ADORA2Aadenosine A2a receptor22Genetic Association37
ADRB2adrenergic, beta-2-, receptor, surface5Genetic Association310
ALG6ALG6, alpha-1,3-glucosyltransferase1SyndromicS1
ARandrogen receptorXGenetic Association36
ASAP2ArfGAP with SH3 domain, ankyrin repeat and PH domain 22Rare Single Gene Mutation23
ASB14ankyrin repeat and SOCS box containing 143Rare Single Gene Mutation34
ASH1LAsh1 (absent, small, or homeotic)-like (Drosophila)1Rare Single Gene Mutation, Syndromic114
ASMTacetylserotonin O-methyltransferaseX,YRare Single Gene Mutation, Genetic Association39
ASPMabnormal spindle microtubule assembly1Rare Single Gene Mutation, Syndromic27
ASTN2astrotactin 29Rare Single Gene Mutation, Genetic Association213
ASXL3Additional sex combs like 3 (Drosophila)18Rare Single Gene Mutation, Syndromic122
ATP10AProbable phospholipid-transporting ATPase VA15Rare Single Gene Mutation, Genetic Association, Functional28
ATP1A1ATPase Na+/K+ transporting subunit alpha 11Rare Single Gene Mutation, Syndromic3S3
ATP1A3ATPase Na+/K+ transporting subunit alpha 319Rare Single Gene Mutation, Syndromic, Functional3S13
ATP2B2ATPase, Ca++ transporting, plasma membrane 23Rare Single Gene Mutation, Genetic Association29
ATP6V0A2ATPase H+ transporting V0 subunit a212Rare Single Gene Mutation33
ATRXalpha thalassemia/mental retardation syndrome X-linkedXRare Single Gene Mutation, Syndromic120
AUTS2autism susceptibility candidate 27Rare Single Gene Mutation, Syndromic, Genetic Association136
AVPR1Aarginine vasopressin receptor 1A12Rare Single Gene Mutation, Genetic Association221
AVPR1Barginine vasopressin receptor 1B1Genetic Association, Functional38
AZGP1alpha-2-glycoprotein 1, zinc-binding7Rare Single Gene Mutation33
BAZ2Bbromodomain adjacent to zinc finger domain 2B2Rare Single Gene Mutation14
BBS4Bardet-Biedl syndrome 415Rare Single Gene Mutation, Syndromic34
BCAS1breast carcinoma amplified sequence 120Rare Single Gene Mutation33
BCKDKBranched chain ketoacid dehydrogenase kinase16Rare Single Gene Mutation14
BCL11AB-cell CLL/lymphoma 11A (zinc finger protein)2Rare Single Gene Mutation, Syndromic116
BIRC6Baculoviral IAP repeat containing 62Rare Single Gene Mutation39
BRAFv-raf murine sarcoma viral oncogene homolog B7Rare Single Gene Mutation, Syndromic18
BRCA2breast cancer 2, early onset13Rare Single Gene Mutation34
BICDL1BICD family like cargo adaptor 112Genetic Association32
BRD4bromodomain containing 419Rare Single Gene Mutation, Syndromic34
BRSK2BR serine/threonine kinase 211Rare Single Gene Mutation, Syndromic13
BST1bone marrow stromal cell antigen 14Genetic Association, Functional35
BTAF1RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae)10Rare Single Gene Mutation26
BTRCbeta-transducin repeat containing E3 ubiquitin protein ligase10Rare Single Gene Mutation32
C15orf62chromosome 15 open reading frame 6215Rare Single Gene Mutation32
C3orf58chromosome 3 open reading frame 583Rare Single Gene Mutation33
C4Bcomplement component 4B6Rare Single Gene Mutation, Genetic Association, Functional36
CA6carbonic anhydrase VI1Rare Single Gene Mutation36
CACNA1Bcalcium voltage-gated channel subunit alpha1 B9Rare Single Gene Mutation, Syndromic, Genetic Association39
CACNA1Ccalcium channel, voltage-dependent, L type, alpha 1C subunit12Rare Single Gene Mutation, Syndromic, Genetic Association, Functional143
CACNA1Dcalcium channel, voltage-dependent, L type, alpha 1D3Rare Single Gene Mutation, Syndromic, Genetic Association, Functional220
CACNA1Ecalcium voltage-gated channel subunit alpha1 E1Rare Single Gene Mutation210
CACNA1Fcalcium channel, voltage-dependent, alpha 1FXRare Single Gene Mutation, Genetic Association37
CACNA1Gcalcium channel, voltage-dependent, T type, alpha 1G subunit17Rare Single Gene Mutation, Syndromic, Genetic Association320
CACNA1Hcalcium channel, voltage-dependent, alpha 1H subunit16Rare Single Gene Mutation225
CACNA1ICalcium channel, voltage-dependent, T type, alpha 1I subunit22Rare Single Gene Mutation, Genetic Association37
CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 17Rare Single Gene Mutation33
CACNA2D3Calcium channel, voltage-dependent, alpha 2/delta subunit 33Rare Single Gene Mutation26
CACNB2Calcium channel, voltage-dependent, beta 2 subunit10Rare Single Gene Mutation, Genetic Association24
CADM1cell adhesion molecule 111Rare Single Gene Mutation39
CADPScalcium dependent secretion activator3Rare Single Gene Mutation, Genetic Association33
CADPS2Ca2+-dependent activator protein for secretion 27Rare Single Gene Mutation, Functional312
CAMK2Acalcium/calmodulin dependent protein kinase II alpha5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional3S8
CAPN12Calpain 1219Rare Single Gene Mutation36
CAPRIN1Cell cycle associated protein 111Rare Single Gene Mutation, Functional24
CARD11caspase recruitment domain family member 117Rare Single Gene Mutation31
CASC4cancer susceptibility candidate 415Rare Single Gene Mutation34
CASKcalcium/calmodulin dependent serine protein kinaseXRare Single Gene Mutation, Syndromic115
CASZ1castor zinc finger 11Rare Single Gene Mutation24
CC2D1ACoiled-coil and C2 domain containing 1A19Rare Single Gene Mutation, Functional212
CCDC88CCoiled-coil domain containing 88C14Rare Single Gene Mutation36
CCDC91coiled-coil domain containing 9112Rare Single Gene Mutation34
CCINcalicin9Rare Single Gene Mutation32
CCNG1cyclin G15Rare Single Gene Mutation21
CCNKcyclin K14SyndromicS2
CCSER1coiled-coil serine rich protein 14Rare Single Gene Mutation32
CCT4Chaperonin containing TCP1, subunit 4 (delta)2Rare Single Gene Mutation23
CD276CD276molecule15Rare Single Gene Mutation32
CD38CD38 molecule4Rare Single Gene Mutation, Genetic Association, Functional38
CDC42BPBCDC42 binding protein kinase beta (DMPK-like)14Rare Single Gene Mutation27
CDH10cadherin 10, type 2 (T2-cadherin)5Rare Single Gene Mutation, Genetic Association310
CDH11cadherin 1116Rare Single Gene Mutation34
CDH13cadherin 1316Rare Single Gene Mutation23
CDH8cadherin 8, type 216Rare Single Gene Mutation310
CDH9cadherin 9, type 2 (T1-cadherin)5Rare Single Gene Mutation, Genetic Association37
CDK8cyclin dependent kinase 813SyndromicS1
CDKL5cyclin-dependent kinase-like 5XRare Single Gene Mutation, Syndromic136
CECR2CECR2, histone acetyl-lysine reader22Rare Single Gene Mutation32
CELF4CUGBP, Elav-like family member 418Rare Single Gene Mutation, Functional210
CELF6CUGBP, Elav-like family member 615Rare Single Gene Mutation, Genetic Association33
CEP135centrosomal protein 1354Rare Single Gene Mutation, Syndromic26
CEP290Centrosomal protein 290kDa12Rare Single Gene Mutation, Syndromic3S8
CEP41testis specific, 147Rare Single Gene Mutation, Syndromic25
CGNL1Cingulin-like 115Rare Single Gene Mutation24
CHD1chromodomain helicase DNA binding protein 15Rare Single Gene Mutation3S4
CHD2Chromodomain helicase DNA binding protein 215Rare Single Gene Mutation, Syndromic134
CHD3chromodomain helicase DNA binding protein 317Rare Single Gene Mutation, Syndromic15
CHD7chromodomain helicase DNA binding protein 78Rare Single Gene Mutation, Syndromic127
CHD8chromodomain helicase DNA binding protein 814Rare Single Gene Mutation, Functional146
CHMP1Acharged multivesicular body protein 1A16Rare Single Gene Mutation, Syndromic25
CHRM3cholinergic receptor muscarinic 31Rare Single Gene Mutation, Genetic Association36
CHRNA7cholinergic receptor, nicotinic, alpha 715Rare Single Gene Mutation213
CHRNB3cholinergic receptor nicotinic beta 3 subunit8Rare Single Gene Mutation32
CIB2Calcium and integrin binding family member 215Rare Single Gene Mutation21
CICcapicua transcriptional repressor19Rare Single Gene Mutation, Functional15
CLASP1cytoplasmic linker associated protein 12Rare Single Gene Mutation23
CLN8Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)8Rare Single Gene Mutation, Syndromic33
CLTCL1clathrin, heavy chain-like 122Rare Single Gene Mutation36
CMIPc-Maf inducing protein16Rare Single Gene Mutation, Genetic Association36
CMPK2cytidine/uridine monophosphate kinase 22Rare Single Gene Mutation32
CNGB3cyclic nucleotide gated channel beta 38Rare Single Gene Mutation33
CNKSR2connector enhancer of kinase suppressor of Ras 2XRare Single Gene Mutation, Syndromic2S5
CNOT3CCR4-NOT transcription complex subunit 319Rare Single Gene Mutation, Syndromic17
CNR1cannabinoid receptor 1 (brain)6Rare Single Gene Mutation, Genetic Association27
CNTN3contactin 33Rare Single Gene Mutation35
CNTN4contactin 43Rare Single Gene Mutation, Syndromic, Genetic Association221
CNTN5Contactin 511Rare Single Gene Mutation, Genetic Association29
CNTN6Contactin 63Rare Single Gene Mutation, Genetic Association213
CNTNAP2contactin associated protein-like 27Rare Single Gene Mutation, Syndromic, Genetic Association2S66
CNTNAP3contactin associated protein-like 39Rare Single Gene Mutation, Functional25
CNTNAP4Contactin associated protein-like 416Rare Single Gene Mutation, Functional211
CNTNAP5contactin associated protein-like 52Rare Single Gene Mutation, Genetic Association312
COL28A1collagen type XXVIII alpha 1 chain7Rare Single Gene Mutation33
CPT2carnitine palmitoyltransferase 21Rare Single Gene Mutation32
CREBBPCREB binding protein16Rare Single Gene Mutation, Syndromic, Genetic Association127
CSMD1CUB and Sushi multiple domains 18Rare Single Gene Mutation, Genetic Association313
CSNK1Ecasein kinase 1 epsilon22Rare Single Gene Mutation, Functional35
CTCFCCCTC-binding factor16Rare Single Gene Mutation, Syndromic, Functional114
CTNNA2catenin alpha 22SyndromicS1
CTNNA3catenin (cadherin-associated protein), alpha 310Rare Single Gene Mutation, Genetic Association314
CTNNB1catenin beta 13Rare Single Gene Mutation, Syndromic121
CTNND2Catenin (cadherin-associated protein), delta 25Rare Single Gene Mutation25
CTTNBP2cortactin binding protein 27Rare Single Gene Mutation, Syndromic28
CUL3Cullin 32Rare Single Gene Mutation, Genetic Association120
CUL7Cullin 76Rare Single Gene Mutation25
CUX1cut like homeobox 17Rare Single Gene Mutation, Functional26
CUX2cut like homeobox 212Rare Single Gene Mutation, Syndromic3S7
CX3CR1Chemokine (C-X3-C motif) receptor 13Rare Single Gene Mutation, Functional33
CYFIP1cytoplasmic FMR1 interacting protein 115Rare Single Gene Mutation, Genetic Association, Functional216
CYLC2cylicin, basic protein of sperm head cytoskeleton 29Rare Single Gene Mutation33
DAGLAdiacylglycerol lipase alpha11Rare Single Gene Mutation, Functional34
DAPP1Dual adaptor of phosphotyrosine and 3-phosphoinositides4Rare Single Gene Mutation21
DDX3XDEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linkedXRare Single Gene Mutation, Syndromic119
DDX53DEAD (Asp-Glu-Ala-Asp) box polypeptide 53XRare Single Gene Mutation33
DEAF1DEAF1 transcription factor11Rare Single Gene Mutation, Syndromic2S17
DENRdensity-regulated protein12Rare Single Gene Mutation23
CADM2Cell adhesion molecule 23Genetic Association33
CAMK4Calcium/calmodulin-dependent protein kinase IV5Genetic Association31
CD99L2CD99 molecule like 2XGenetic Association31
CDH22cadherin-like 2220Genetic Association34
CPEB4cytoplasmic polyadenylation element binding protein 45Functional21
CYP11B1cytochrome P450, family 11, subfamily B, polypeptide 18Syndromic34
DDCdopa decarboxylase7Genetic Association32
DHCR77-dehydrocholesterol reductase11Rare Single Gene Mutation, Syndromic116
DIP2ADIP2 disco-interacting protein 2 homolog A (Drosophila)21Rare Single Gene Mutation25
DIP2Cdisco interacting protein 2 homolog C10Rare Single Gene Mutation22
DISC1disrupted in schizophrenia 11Rare Single Gene Mutation, Syndromic, Genetic Association234
DIXDC1DIX domain containing 111Rare Single Gene Mutation, Functional34
DLG1discs large MAGUK scaffold protein 13Rare Single Gene Mutation33
DLG2discs large MAGUK scaffold protein 211Rare Single Gene Mutation22
DLG4discs large MAGUK scaffold protein 417Rare Single Gene Mutation, Syndromic, Functional111
DLGAP1DLG associated protein 118Rare Single Gene Mutation, Functional27
DLGAP2discs, large (Drosophila) homolog-associated protein 28Rare Single Gene Mutation312
DLGAP3DLG associated protein 31Rare Single Gene Mutation, Genetic Association, Functional310
DLL1delta like canonical Notch ligand 16Rare Single Gene Mutation, Syndromic3S2
DLX3distal-less homeobox 317Rare Single Gene Mutation22
DLX6distal-less homeobox 67Rare Single Gene Mutation39
DMPKdystrophia myotonica-protein kinase19Rare Single Gene Mutation, Syndromic18
DMXL2Dmx-like 215Rare Single Gene Mutation36
DNAH10Dynein, axonemal, heavy chain 1012Rare Single Gene Mutation36
DNAH17dynein axonemal heavy chain 1717Rare Single Gene Mutation35
DNAH3dynein axonemal heavy chain 316Rare Single Gene Mutation34
DNERDelta/notch-like EGF repeat containing2Rare Single Gene Mutation, Genetic Association32
DNMT3ADNA (cytosine-5-)-methyltransferase 3 alpha2Rare Single Gene Mutation, Syndromic, Genetic Association112
DOCK1Dedicator of cytokinesis 110Rare Single Gene Mutation32
DOCK4Dedicator of cytokinesis 47Rare Single Gene Mutation, Genetic Association, Functional39
DOCK8dedicator of cytokinesis 89Rare Single Gene Mutation29
DOLKdolichol kinase9SyndromicS2
DPP10Dipeptidyl-peptidase 102Rare Single Gene Mutation211
DPP3dipeptidyl peptidase 311Rare Single Gene Mutation33
DPP4Dipeptidyl-peptidase 42Rare Single Gene Mutation, Genetic Association36
DPP6dipeptidyl-peptidase 67Rare Single Gene Mutation, Genetic Association, Functional324
DPYDdihydropyrimidine dehydrogenase1Rare Single Gene Mutation, Syndromic, Genetic Association313
DPYSL2dihydropyrimidinase like 28Rare Single Gene Mutation, Genetic Association212
DPYSL3dihydropyrimidinase like 35Rare Single Gene Mutation32
DRD2Dopamine receptor D211Rare Single Gene Mutation, Genetic Association36
DRD3dopamine receptor D33Rare Single Gene Mutation, Genetic Association38
DSCAMDown syndrome cell adhesion molecule21Rare Single Gene Mutation, Genetic Association18
DSTDystonin6Rare Single Gene Mutation37
DUSP15dual specificity phosphatase 1520Rare Single Gene Mutation, Genetic Association34
DVL3Dishevelled segment polarity protein 33Rare Single Gene Mutation, Functional33
DYDC1DPY30 domain containing 110Rare Single Gene Mutation32
DYDC2DPY30 domain containing 21031
DYNC1H1dynein cytoplasmic 1 heavy chain 114Rare Single Gene Mutation, Syndromic214
DYRK1ADual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A21Rare Single Gene Mutation, Syndromic, Functional142
EBF3early B-cell factor 310Rare Single Gene Mutation, Syndromic17
EFR3AEFR3 homolog A (S. cerevisiae)8Rare Single Gene Mutation25
EHMT1Euchromatic histone-lysine N-methyltransferase 19Rare Single Gene Mutation, Syndromic123
DLX2distal-less homeobox 22Genetic Association311
DRD1Dopamine receptor D15Genetic Association, Functional34
EIF3Geukaryotic translation initiation factor 3 subunit G19Rare Single Gene Mutation33
EIF4Eeukaryotic translation initiation factor 4E4Rare Single Gene Mutation, Genetic Association312
ELAVL2ELAV like neuron-specific RNA binding protein 29Rare Single Gene Mutation, Genetic Association, Functional35
ELAVL3ELAV like neuron-specific RNA binding protein 319Rare Single Gene Mutation23
ELOVL2ELOVL fatty acid elongase 26Genetic Association31
ELP4Elongator acetyltransferase complex subunit 411Rare Single Gene Mutation, Genetic Association27
EN2engrailed homolog 27Rare Single Gene Mutation, Genetic Association, Functional323
EP300E1A binding protein p30022Rare Single Gene Mutation, Syndromic117
EP400E1A binding protein p40012Rare Single Gene Mutation26
EPC2Enhancer of polycomb homolog 2 (Drosophila)2Rare Single Gene Mutation34
EPHB2EPH receptor B21Rare Single Gene Mutation34
EPPK1epiplakin 18Rare Single Gene Mutation34
EMSYEMSY, BRCA2 interacting transcriptional repressor11Rare Single Gene Mutation, Functional24
ERGERG, ETS transcription factor21Genetic Association31
ERMNermin2Rare Single Gene Mutation31
ESR2estrogen receptor 2 (ER beta)14Rare Single Gene Mutation, Syndromic, Genetic Association39
ESRRBestrogen-related receptor beta14Rare Single Gene Mutation, Genetic Association37
ETFBElectron-transfer-flavoprotein, beta polypeptide19Rare Single Gene Mutation23
EXOC3exocyst complex component 35Rare Single Gene Mutation31
EXOC5exocyst complex component 514Rare Single Gene Mutation32
EXOC6exocyst complex component 610Rare Single Gene Mutation31
EXOC6Bexocyst complex component 6B2Rare Single Gene Mutation34
EXT1Exostosin 18Rare Single Gene Mutation, Genetic Association36
FABP5fatty acid binding protein 5 (psoriasis-associated)8Rare Single Gene Mutation, Functional37
FAM47Afamily with sequence similarity 47 member AXRare Single Gene Mutation31
FAM92BFamily with sequence similarity 92, member B16Rare Single Gene Mutation23
FAM98Cfamily with sequence similarity 98 member C19Rare Single Gene Mutation32
FAN1FANCD2/FANCI-associated nuclease 115Rare Single Gene Mutation31
FAT1FAT atypical cadherin 14Rare Single Gene Mutation34
FBN1Fibrillin 115Rare Single Gene Mutation210
FBXO11F-box protein 112Rare Single Gene Mutation, Syndromic3S5
FBXO40F-box protein 403Rare Single Gene Mutation, Genetic Association34
FCRL6Fc receptor like 61Rare Single Gene Mutation34
ERBINerbb2 interacting protein5Rare Single Gene Mutation26
FEZF2FEZ family zinc finger 23Rare Single Gene Mutation, Genetic Association38
FGAFibrinogen alpha chain4Rare Single Gene Mutation, Genetic Association32
FHITfragile histidine triad gene3Rare Single Gene Mutation, Genetic Association312
FMR1fragile X mental retardation 1XRare Single Gene Mutation, Syndromic, Genetic Association, Functional142
FOXG1Forkhead box G114Rare Single Gene Mutation, Syndromic, Genetic Association126
FOXP1forkhead box P13Rare Single Gene Mutation, Syndromic, Genetic Association, Functional148
FOXP2forkhead box P27Rare Single Gene Mutation, Genetic Association242
FRKfyn-related kinase6Rare Single Gene Mutation, Genetic Association33
GABBR2gamma-aminobutyric acid type B receptor subunit 29Rare Single Gene Mutation, Syndromic, Functional3S10
GABRA4gamma-aminobutyric acid (GABA) A receptor, alpha 44Rare Single Gene Mutation, Genetic Association36
GABRB3gamma-aminobutyric acid (GABA) A receptor, beta 315Rare Single Gene Mutation, Genetic Association237
GABRG3gamma-aminobutyric acid type A receptor gamma3 subunit15Genetic Association29
GALNT13polypeptide N-acetylgalactosaminyltransferase 132Rare Single Gene Mutation34
GALNT14polypeptide N-acetylgalactosaminyltransferase 142Rare Single Gene Mutation, Genetic Association35
GALNT8polypeptide N-acetylgalactosaminyltransferase 812Rare Single Gene Mutation22
GATMGlycine amidinotransferase (L-arginine:glycine amidinotransferase)15SyndromicS2
GDAguanine deaminase9Rare Single Gene Mutation, Genetic Association32
GGNBP2gametogenetin binding protein 217Rare Single Gene Mutation22
GIGYF1GRB10 interacting GYF protein 17Rare Single Gene Mutation16
GIGYF2GRB10 interacting GYF protein 22Rare Single Gene Mutation17
GLIS1GLIS family zinc finger 11Rare Single Gene Mutation, Genetic Association32
GLO1glyoxalase I6Rare Single Gene Mutation, Genetic Association310
GLRA2glycine receptor, alpha 2XRare Single Gene Mutation, Functional315
GNASGNAS complex locus20Rare Single Gene Mutation38
GNB1Lguanine nucleotide binding protein (G protein), beta polypeptide 1-like22Rare Single Gene Mutation, Genetic Association32
GPC4glypican 4XRare Single Gene Mutation22
GPC6glypican 613Rare Single Gene Mutation, Genetic Association38
GPD2glycerol-3-phosphate dehydrogenase 22Rare Single Gene Mutation, Genetic Association34
GPHNGephyrin14Rare Single Gene Mutation28
GPR37G protein-coupled receptor 377Rare Single Gene Mutation32
GPR85G protein-coupled receptor 857Rare Single Gene Mutation, Genetic Association34
GRIA1glutamate ionotropic receptor AMPA type subunit 15Rare Single Gene Mutation26
GRIA2glutamate ionotropic receptor AMPA type subunit 24Rare Single Gene Mutation23
GRID1Glutamate receptor, ionotropic, delta 110Rare Single Gene Mutation, Genetic Association26
GRID2glutamate receptor, ionotropic, delta 24Rare Single Gene Mutation, Syndromic, Genetic Association39
GRID2IPGrid2 interacting protein7Rare Single Gene Mutation34
GRIK2glutamate ionotropic receptor kainate type subunit 26Rare Single Gene Mutation, Genetic Association218
GRIK3glutamate ionotropic receptor kainate type subunit 31Rare Single Gene Mutation, Genetic Association35
GRIK4Glutamate receptor, ionotropic, kainate 411Rare Single Gene Mutation, Functional34
GRIK5Glutamate receptor, ionotropic, kainate 519Rare Single Gene Mutation28
FBXO33F-box protein 3314Genetic Association33
GAS2Growth arrest-specific 211Genetic Association31
GRIN1Glutamate receptor, ionotropic, N-methyl D-aspartate 19Rare Single Gene Mutation, Functional217
GRIN2Aglutamate receptor, ionotropic, N-methyl D-aspartate 2A16Rare Single Gene Mutation, Syndromic, Genetic Association239
GRIN2Bglutamate receptor, inotropic, N-methyl D-apartate 2B12Rare Single Gene Mutation, Syndromic, Genetic Association151
GPX1glutathione peroxidase 13Genetic Association35
GRIP1glutamate receptor interacting protein 112Rare Single Gene Mutation213
GRM5Glutamate receptor, metabotropic 511Rare Single Gene Mutation, Genetic Association, Functional36
GRM7Glutamate receptor, metabotropic 73Rare Single Gene Mutation, Genetic Association313
GSTM1glutathione S-transferase M11Genetic Association33
GTF2Igeneral transcription factor IIi7Rare Single Gene Mutation, Genetic Association35
GUCY1A2guanylate cyclase 1 soluble subunit alpha 211Rare Single Gene Mutation, Genetic Association32
HDAC4histone deacetylase 42Rare Single Gene Mutation, Syndromic, Genetic Association3S15
HDAC8histone deacetylase 8XSyndromicS6
HDLBPhigh density lipoprotein binding protein2Rare Single Gene Mutation34
HECTD4HECT domain E3 ubiquitin protein ligase 412Rare Single Gene Mutation14
HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 22Rare Single Gene Mutation, Syndromic27
H2BC11H2B clustered histone 116Rare Single Gene Mutation33
HIVEP3human immunodeficiency virus type I enhancer binding protein 31Rare Single Gene Mutation, Genetic Association26
HLA-Amajor histocompatibility complex, class I, A6Genetic Association310
HLA-BMajor histocompatibility complex, class I, B6Genetic Association35
HLA-DPB1major histocompatibility complex, class II, DP beta 16Rare Single Gene Mutation, Genetic Association32
HLA-DRB1major histocompatibility complex, class II, DR beta 16Genetic Association311
HLA-Gmajor histocompatibility complex, class I, G6Genetic Association34
HMGN1high mobility group nucleosome binding domain 121Genetic Association21
HNRNPH2heterogeneous nuclear ribonucleoprotein H2XRare Single Gene Mutation, Syndromic16
HNRNPUheterogeneous nuclear ribonucleoprotein U1Rare Single Gene Mutation, Syndromic, Functional113
HOMER1Homer homolog 1 (Drosophila)5Rare Single Gene Mutation, Functional35
HRASv-Ha-ras Harvey rat sarcoma viral oncogene homolog11Rare Single Gene Mutation, Syndromic, Genetic Association111
HS3ST5heparan sulfate (glucosamine) 3-O-sulfotransferase 56Genetic Association37
HSD11B1hydroxysteroid (11-beta) dehydrogenase 11Syndromic38
HTR1B5-hydroxytryptamine (serotonin) receptor 1B6Rare Single Gene Mutation, Genetic Association36
HTR3A5-hydroxytryptamine (serotonin) receptor 3A11Rare Single Gene Mutation, Genetic Association, Functional37
HTR3C5-hydroxytryptamine (serotonin) receptor 3, family member C3Rare Single Gene Mutation, Genetic Association36
HYDINHYDIN, axonemal central pair apparatus protein16Rare Single Gene Mutation, Genetic Association33
ICA1islet cell autoantigen 17Rare Single Gene Mutation28
IL1R2interleukin 1 receptor, type II2Rare Single Gene Mutation36
IL1RAPL1interleukin 1 receptor accessory protein-like 1XRare Single Gene Mutation322
IL1RAPL2interleukin 1 receptor accessory protein-like 2XRare Single Gene Mutation, Genetic Association32
ILF2Interleukin enhancer binding factor 21Rare Single Gene Mutation24
IMMP2LIMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)7Rare Single Gene Mutation, Genetic Association, Functional314
INPP1inositol polyphosphate-1-phosphatase2Rare Single Gene Mutation, Genetic Association34
INTS6Integrator complex subunit 613Rare Single Gene Mutation24
IQGAP3IQ motif containing GTPase activating protein 31Rare Single Gene Mutation34
IQSEC2IQ motif and Sec7 domain 2XRare Single Gene Mutation, Syndromic, Functional125
IRF2BPLInterferon regulatory factor 2 binding protein-like14Rare Single Gene Mutation, Syndromic15
ITGB3integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)17Rare Single Gene Mutation, Genetic Association215
ITPR1inositol 1,4,5-trisphosphate receptor type 13Rare Single Gene Mutation39
JARID2jumonji and AT-rich interaction domain containing 26Rare Single Gene Mutation, Syndromic, Genetic Association211
JMJD1Cjumonji domain containing 1C10Rare Single Gene Mutation38
KANK1KN motif and ankyrin repeat domains 19Rare Single Gene Mutation39
KAT2BK(lysine) acetyltransferase 2B3Rare Single Gene Mutation26
KAT6AK(lysine) acetyltransferase 6A8Rare Single Gene Mutation, Syndromic2S12
KATNAL1katanin catalytic subunit A1 like 113Rare Single Gene Mutation, Functional32
KATNAL2Katanin p60 subunit A-like 218Rare Single Gene Mutation111
KCNB1potassium voltage-gated channel subfamily B member 120Rare Single Gene Mutation, Syndromic15
KCNC1potassium voltage-gated channel subfamily C member 111Rare Single Gene Mutation35
KCND2potassium voltage-gated channel subfamily D member 27Rare Single Gene Mutation, Genetic Association36
KCND3potassium voltage-gated channel subfamily D member 31Rare Single Gene Mutation, Syndromic, Genetic Association38
KCNJ10potassium voltage-gated channel subfamily J member 101Rare Single Gene Mutation, Syndromic, Genetic Association211
KCNJ15potassium voltage-gated channel subfamily J member 1521Rare Single Gene Mutation33
KCNK7potassium two pore domain channel subfamily K member 711Rare Single Gene Mutation32
KCNMA1potassium large conductance calcium-activated channel, subfamily M, alpha member 110Rare Single Gene Mutation, Syndromic320
KCNQ2potassium voltage-gated channel subfamily Q member 220Rare Single Gene Mutation, Syndromic, Genetic Association224
KCNQ3potassium voltage-gated channel subfamily Q member 38Rare Single Gene Mutation, Genetic Association29
KCNS3potassium voltage-gated channel modifier subfamily S member 32Rare Single Gene Mutation24
KCTD13Potassium channel tetramerisation domain containing 1316Rare Single Gene Mutation, Functional37
KDM4Blysine demethylase 4B19Rare Single Gene Mutation, Functional33
KDM4Clysine demethylase 4C9Rare Single Gene Mutation21
KDM5BLysine (K)-specific demethylase 5B1Rare Single Gene Mutation, Syndromic, Functional212
KDM5Clysine demethylase 5CXRare Single Gene Mutation, Syndromic, Functional222
KDM6Alysine demethylase 6AXRare Single Gene Mutation, Syndromic27
KDM6BLysine (K)-specific demethylase 6B17Rare Single Gene Mutation, Syndromic110
KHDRBS2KH domain containing, RNA binding, signal transduction associated 26Rare Single Gene Mutation33
KIAA1586KIAA15866Rare Single Gene Mutation24
KIF13BKinesin family member 13B8Rare Single Gene Mutation33
KIF14kinesin family member 141Rare Single Gene Mutation, Syndromic24
KIF5CKinesin family member 5C2Rare Single Gene Mutation, Syndromic3S7
KIRREL3Kin of IRRE like 3 (Drosophila)11Rare Single Gene Mutation215
KLF16Kruppel like factor 1619Rare Single Gene Mutation31
KMT2ALysine (K)-specific methyltransferase 2A11Rare Single Gene Mutation, Syndromic120
KMT2CLysine (K)-specific methyltransferase 2C7Rare Single Gene Mutation, Syndromic115
KMT2ELysine (K)-specific methyltransferase 2E7Rare Single Gene Mutation, Syndromic, Genetic Association2S7
KRR1KRR1, small subunit (SSU) processome component, homolog (yeast)12Rare Single Gene Mutation, Genetic Association32
KRT26keratin 2617Rare Single Gene Mutation32
LAMA1Laminin, alpha 118Rare Single Gene Mutation, Genetic Association35
LAMB1laminin, beta 17Rare Single Gene Mutation, Genetic Association27
LEO1LEO1 homolog, Paf1/RNA polymerase II complex component15Rare Single Gene Mutation23
LEPLeptin7Rare Single Gene Mutation31
LILRB2leukocyte immunoglobulin like receptor B219Rare Single Gene Mutation32
LIN7Blin-7 homolog B, crumbs cell polarity complex component19Rare Single Gene Mutation32
LMX1BLIM homeobox transcription factor 1 beta9Genetic Association21
LRBALPS-responsive vesicle trafficking, beach and anchor containing4Rare Single Gene Mutation35
LRFN2leucine rich repeat and fibronectin type III domain containing 26Rare Single Gene Mutation, Genetic Association, Functional34
LRFN5leucine rich repeat and fibronectin type III domain containing 514Rare Single Gene Mutation, Genetic Association36
LRP1LDL receptor related protein 112Rare Single Gene Mutation23
LRP2LDL receptor related protein 22Rare Single Gene Mutation, Syndromic, Genetic Association311
LRRC1leucine rich repeat containing 16Rare Single Gene Mutation, Genetic Association36
KMT5Blysine methyltransferase 5B11Rare Single Gene Mutation, Syndromic111
LNPKlunapark, ER junction formation factor2SyndromicS1
LRRC4leucine rich repeat containing 47Rare Single Gene Mutation, Functional33
LZTR1Leucine-zipper-like transcription regulator 122Rare Single Gene Mutation, Syndromic110
LZTS2leucine zipper, putative tumor suppressor 210Genetic Association34
MACROD2MACRO domain containing 220Rare Single Gene Mutation, Genetic Association219
MAGEL2MAGE-like 215Rare Single Gene Mutation, Syndromic116
MAOAmonoamine oxidase AXRare Single Gene Mutation, Syndromic, Genetic Association, Functional315
MAOBmonoamine oxidase BXRare Single Gene Mutation, Genetic Association, Functional35
MAPK3mitogen-activated protein kinase 316Rare Single Gene Mutation, Functional35
MARK1microtubule affinity regulating kinase 11Rare Single Gene Mutation, Genetic Association310
MBD1methyl-CpG binding domain protein 118Rare Single Gene Mutation37
MBD3methyl-CpG binding domain protein 319Rare Single Gene Mutation34
MBD4methyl-CpG binding domain protein 43Rare Single Gene Mutation37
MBD5Methyl-CpG binding domain protein 52Rare Single Gene Mutation, Syndromic132
MBD6Methyl-CpG binding domain protein 612Rare Single Gene Mutation31
MBOAT7membrane bound O-acyltransferase domain containing 719Rare Single Gene Mutation, Syndromic16
MCM4minichromosome maintenance complex component 48Rare Single Gene Mutation32
MCM6minichromosome maintenance complex component 62Rare Single Gene Mutation32
MCPH1microcephalin 18Rare Single Gene Mutation316
MDGA2MAM domain containing glycosylphosphatidylinositol anchor 214Rare Single Gene Mutation, Genetic Association38
MECP2Methyl CpG binding protein 2XRare Single Gene Mutation, Syndromic, Functional180
MED12Lmediator complex subunit 12L3Rare Single Gene Mutation, Syndromic3S3
MED13mediator complex subunit 1317Rare Single Gene Mutation, Syndromic14
MED13LMediator complex subunit 13-like12Rare Single Gene Mutation, Syndromic131
MEF2Cmyocyte enhancer factor 2C5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional3S34
MEGF10multiple EGF like domains 105Rare Single Gene Mutation, Genetic Association36
MEGF11multiple EGF like domains 1115Rare Single Gene Mutation35
MEIS2Meis homeobox 215Rare Single Gene Mutation, Syndromic16
MEMO1mediator of cell motility 12Rare Single Gene Mutation, Functional32
METmet proto-oncogene (hepatocyte growth factor receptor)7Rare Single Gene Mutation, Genetic Association, Functional237
MFRPMembrane frizzled-related protein11Rare Single Gene Mutation26
MIB1Mindbomb E3 ubiquitin protein ligase 118Rare Single Gene Mutation36
METTL26methyltransferase like 2616Rare Single Gene Mutation32
MKL2MKL/myocardin-like 216Rare Single Gene Mutation, Genetic Association310
MLANAmelan-A9Rare Single Gene Mutation33
MNTMAX network transcriptional repressor17Genetic Association31
MPP6membrane palmitoylated protein 67Rare Single Gene Mutation33
MSANTD2Myb/SANT DNA binding domain containing 211Rare Single Gene Mutation31
MSNP1ASMoesinpseudogene 1, antisense5Genetic Association, Functional212
MSR1macrophage scavenger receptor 18Rare Single Gene Mutation33
MTF1metal-regulatory transcription factor 11Syndromic, Genetic Association34
MTHFRmethylenetetrahydrofolate reductase (NAD(P)H)1Rare Single Gene Mutation, Syndromic, Genetic Association316
MTORMechanistic target of rapamycin (serine/threonine kinase)1Rare Single Gene Mutation, Syndromic, Functional2S18
MUC12mucin 12, cell surface associated7Rare Single Gene Mutation32
MUC4mucin 4, cell surface associated3Rare Single Gene Mutation36
MYH10myosin heavy chain 1017Rare Single Gene Mutation25
MYH4Myosin, heavy chain 4, skeletal muscle17Rare Single Gene Mutation34
MYO16myosin XVI13Rare Single Gene Mutation, Genetic Association38
MYO1Emyosin IE15Rare Single Gene Mutation34
MIR137microRNA 1371Rare Single Gene Mutation, Syndromic, Genetic Association, Functional210
MYO5Amyosin VA15Rare Single Gene Mutation, Genetic Association25
MYO5Cmyosin VC15Rare Single Gene Mutation33
MYO9BMyosin IXB19Rare Single Gene Mutation24
MYT1LMyelin transcription factor 1-like2Rare Single Gene Mutation, Syndromic, Genetic Association117
NAA15N(alpha)-acetyltransferase 15, NatA auxiliary subunit4Rare Single Gene Mutation, Syndromic113
NACC1nucleus accumbens associated 119Rare Single Gene Mutation, Syndromic3S6
NAV2neuron navigator 211Rare Single Gene Mutation29
NBEAneurobeachin13Rare Single Gene Mutation, Syndromic, Functional118
NCKAP1NCK-associated protein 12Rare Single Gene Mutation18
NCKAP5NCK-associated protein 52Rare Single Gene Mutation31
NCOR1nuclear receptor corepressor 117Rare Single Gene Mutation, Functional26
NEGR1neuronal growth regulator 11Rare Single Gene Mutation, Genetic Association, Functional36
NEO1Neogenin 11531
NF1neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)17Rare Single Gene Mutation, Syndromic, Genetic Association124
NFE2L3nuclear factor, erythroid 2 like 37Rare Single Gene Mutation23
NFIAnuclear factor I/A1Rare Single Gene Mutation311
NFIBnuclear factor I B9Rare Single Gene Mutation, Syndromic3S4
NINLNinein-like20Rare Single Gene Mutation25
NIPA1non imprinted in Prader-Willi/Angelman syndrome 115Rare Single Gene Mutation35
NIPA2non imprinted in Prader-Willi/Angelman syndrome 215Rare Single Gene Mutation32
NIPBLNipped-B homolog (Drosophila)5Rare Single Gene Mutation, Syndromic113
NLGN1neuroligin 13Rare Single Gene Mutation, Genetic Association217
NLGN2Neuroligin 217Rare Single Gene Mutation, Functional18
NLGN3neuroligin 3XRare Single Gene Mutation134
NEXMIFneurite extension and migration factorXRare Single Gene Mutation, Syndromic119
NLGN4Xneuroligin 4, X-linkedXRare Single Gene Mutation, Genetic Association233
NLGN4Yneuroligin 4, Y-linkedYRare Single Gene Mutation, Genetic Association, Functional35
NR1D1nuclear receptor subfamily 1 group D member 117Rare Single Gene Mutation33
NR2F1nuclear receptor subfamily 2 group F member 15Rare Single Gene Mutation, Syndromic3S12
NR3C2Nuclear receptor subfamily 3, group C, member 24Rare Single Gene Mutation, Syndromic2S5
NR4A2nuclear receptor subfamily 4 group A member 22Rare Single Gene Mutation16
NRCAMneuronal cell adhesion molecule7Rare Single Gene Mutation, Genetic Association35
NRP2neuropilin 22Rare Single Gene Mutation, Genetic Association38
NRXN1neurexin 12Rare Single Gene Mutation, Syndromic, Genetic Association181
NRXN2neurexin 211Rare Single Gene Mutation, Genetic Association111
NRXN3neurexin 314Rare Single Gene Mutation, Genetic Association118
NSD1nuclear receptor binding SET domain protein 15Rare Single Gene Mutation, Syndromic114
NTNG1netrin G11Rare Single Gene Mutation, Syndromic, Genetic Association3S8
NTNG2netrin G29SyndromicS1
NTRK1neurotrophic tyrosine kinase, receptor, type 11Rare Single Gene Mutation, Syndromic38
NTRK2neurotrophic receptor tyrosine kinase 29SyndromicS3
NTRK3neurotrophic tyrosine kinase, receptor, type 315Rare Single Gene Mutation, Syndromic, Genetic Association313
NUAK1NUAK family, SNF1-like kinase, 112Rare Single Gene Mutation, Functional26
NUDCD2NudC domain containing 25Rare Single Gene Mutation23
NUP133nucleoporin 133kDa1Rare Single Gene Mutation34
NXPH1neurexophilin 17Rare Single Gene Mutation35
NSMCE3NSE3 homolog, SMC5-SMC6 complex component15Functional33
NAALADL2N-acetylated alpha-linked acidic dipeptidase-like 23Genetic Association31
NDUFA5NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa7Genetic Association33
NOTCH2NLnotch 2 N-terminal like1Functional31
NPAS2neuronal PAS domain protein 22Genetic Association34
ODF3L2outer dense fiber of sperm tails 3-like 219Rare Single Gene Mutation31
OFD1OFD1, centriole and centriolar satellite proteinXRare Single Gene Mutation32
OPHN1oligophrenin 1XRare Single Gene Mutation, Syndromic215
OR1C1olfactory receptor, family 1, subfamily C, member 11Rare Single Gene Mutation33
OR2M4Olfactory receptor, family 2, subfamily M, member 41Genetic Association31
OR2T10olfactory receptor family 2 subfamily T member 101Rare Single Gene Mutation33
OR52M1Olfactory receptor, family 52, subfamily M, member 111Rare Single Gene Mutation22
OTUD7AOTU deubiquitinase 7A15Rare Single Gene Mutation, Functional24
OTX1Orthodenticle homeobox 12Genetic Association33
OXToxytocin/neurophysin I prepropeptide20Rare Single Gene Mutation, Genetic Association35
OXTRoxytocin receptor3Rare Single Gene Mutation, Genetic Association, Functional244
P2RX5Purinergic receptor P2X, ligand gated ion channel, 517Rare Single Gene Mutation23
P4HA2Prolyl 4-hydroxylase, alpha polypeptide II5Rare Single Gene Mutation24
PACS1phosphofurin acidic cluster sorting protein 111Rare Single Gene Mutation, Syndromic16
PAFAH1B2platelet activating factor acetylhydrolase 1b catalytic subunit 211Rare Single Gene Mutation33
PAHPhenylalanine hydroxylase12Rare Single Gene Mutation, Syndromic26
PAK2p21 (RAC1) activated kinase 23Rare Single Gene Mutation24
PAPOLGpoly(A) polymerase gamma2Rare Single Gene Mutation34
PARD3BPar-3 partitioning defective 3 homolog B (C. elegans)2Rare Single Gene Mutation, Genetic Association27
PAX5Paired box 59Rare Single Gene Mutation25
PBX1PBX homeobox 11Rare Single Gene Mutation34
PCDH10protocadherin 104Rare Single Gene Mutation38
PCDH11Xprotocadherin 11 X-linkedXRare Single Gene Mutation32
PCDH15protocadherin related 1510Rare Single Gene Mutation, Syndromic, Genetic Association35
PCDH19protocadherin 19XRare Single Gene Mutation, Syndromic, Functional134
PATJPATJ, crumbs cell polarity complex component1Rare Single Gene Mutation33
PCDH9protocadherin 913Rare Single Gene Mutation, Genetic Association37
PCDHA1Protocadherin alpha 15Rare Single Gene Mutation, Genetic Association33
PCDHA10Protocadherin alpha 105Rare Single Gene Mutation, Genetic Association34
PCDHA11Protocadherin alpha 115Rare Single Gene Mutation, Genetic Association35
PCDHA12Protocadherin alpha 125Rare Single Gene Mutation, Genetic Association33
PCDHA13Protocadherin alpha 135Rare Single Gene Mutation, Genetic Association34
PCDHA2Protocadherin alpha 25Rare Single Gene Mutation, Genetic Association35
PCDHA3Protocadherin alpha 35Rare Single Gene Mutation, Genetic Association33
PCDHA4Protocadherin alpha 45Rare Single Gene Mutation, Genetic Association34
PCDHA5Protocadherin alpha 55Rare Single Gene Mutation, Genetic Association35
PCDHA6Protocadherin alpha 65Rare Single Gene Mutation, Genetic Association33
PCDHA7Protocadherin alpha 75Rare Single Gene Mutation, Genetic Association34
PCDHA8Protocadherin alpha 85Rare Single Gene Mutation, Genetic Association34
PCDHA9Protocadherin alpha 95Rare Single Gene Mutation, Genetic Association34
PCDHAC1Protocadherin alpha subfamily C, 15Rare Single Gene Mutation, Genetic Association33
PCM1pericentriolar material 18Rare Single Gene Mutation33
PDCD1programmed cell death 12Rare Single Gene Mutation33
PDE1Cphosphodiesterase 1C7Rare Single Gene Mutation, Genetic Association33
PDK2pyruvate dehydrogenase kinase 217Rare Single Gene Mutation34
PER1period homolog 1 (Drosophila)17Rare Single Gene Mutation, Genetic Association37
PER2period circadian clock 22Rare Single Gene Mutation23
PEX7peroxisomal biogenesis factor 76Rare Single Gene Mutation, Genetic Association33
PHF2PHD finger protein 29Rare Single Gene Mutation25
PHF21APHD finger protein 21A11Rare Single Gene Mutation, Syndromic17
PHF3PHD finger protein 36Rare Single Gene Mutation13
PHIPpleckstrin homology domain interacting protein6Rare Single Gene Mutation, Syndromic111
PHRF1PHD and ring finger domains 111Rare Single Gene Mutation24
PITX1paired-like homeodomain 15Rare Single Gene Mutation, Genetic Association36
PLAURPlasminogen activator, urokinase receptor19Rare Single Gene Mutation, Genetic Association32
PLCB1phospholipase C, beta 1 (phosphoinositide-specific)20Rare Single Gene Mutation27
PLCD4phospholipase C delta 42Rare Single Gene Mutation33
PLNphospholamban6Rare Single Gene Mutation34
PLXNA3plexin A3XRare Single Gene Mutation33
PLXNA4Plexin A47Rare Single Gene Mutation, Functional24
PLXNB1plexin B13Rare Single Gene Mutation23
PNPLA7patatin like phospholipase domain containing 79Rare Single Gene Mutation33
POGZPogo transposable element with ZNF domain1Rare Single Gene Mutation, Syndromic129
POLA2DNA polymerase alpha 2, accessory subunit11Rare Single Gene Mutation32
POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)1Rare Single Gene Mutation, Syndromic15
POMT1protein O-mannosyltransferase 19Rare Single Gene Mutation32
POT1Protection of telomeres 1 homolog (S. pombe)7Rare Single Gene Mutation31
POU3F3POU class 3 homeobox 32SyndromicS1
PPFIA1PTPRF interacting protein alpha 111Rare Single Gene Mutation33
PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D17Rare Single Gene Mutation, Syndromic3S6
PPP2CAprotein phosphatase 2 catalytic subunit alpha5SyndromicS1
PPP2R1Bprotein phosphatase 2 regulatory subunit A, beta11Rare Single Gene Mutation36
PPP2R5DProtein phosphatase 2, regulatory subunit B', delta6Rare Single Gene Mutation, Syndromic114
PREX1Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 120Genetic Association21
PRICKLE1Prickle homolog 1 (Drosophila)12Rare Single Gene Mutation, Syndromic, Functional24
PRICKLE2prickle planar cell polarity protein 23Rare Single Gene Mutation, Functional23
PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta7Rare Single Gene Mutation34
PRKCAprotein kinase C alpha17Rare Single Gene Mutation34
PRKCBprotein kinase C beta16Rare Single Gene Mutation, Genetic Association26
PRKDCprotein kinase, DNA-activated, catalytic polypeptide8Rare Single Gene Mutation, Syndromic, Functional35
PRODHProline dehydrogenase (oxidase) 122Syndromic, Genetic Association2S6
PRPF39pre-mRNA processing factor 3914Rare Single Gene Mutation33
PRR12proline rich 1219SyndromicS2
PRUNE2prune homolog 29Rare Single Gene Mutation, Syndromic37
PSD3pleckstrin and Sec7 domain containing 38Rare Single Gene Mutation, Genetic Association35
PSMD12proteasome 26S subunit, non-ATPase 1217Syndromic13
PTBP2polypyrimidine tract binding protein 21Rare Single Gene Mutation, Genetic Association34
PRKNparkin RBR E3 ubiquitin protein ligase6Rare Single Gene Mutation, Genetic Association215
PCDHAC2Protocadherin alpha subfamily C, 25Genetic Association33
PHBprohibitin17Genetic Association21
PIK3CGphosphoinositide-3-kinase, catalytic, gamma polypeptide7Genetic Association34
PON1paraoxonase 17Genetic Association25
PPP1R1BProtein phosphatase 1, regulatory (inhibitor) subunit 1B17Genetic Association31
PTCHD1patched domain containing 1XRare Single Gene Mutation, Genetic Association111
PTENphosphatase and tensin homolog (mutated in multiple advanced cancers 1)10Rare Single Gene Mutation, Syndromic, Functional160
PTGS2prostaglandin-endoperoxide synthase 21Genetic Association, Functional36
PTK7Protein tyrosine kinase 7 (inactive)6Rare Single Gene Mutation24
PTPN11protein tyrosine phosphatase, non-receptor type 1112Rare Single Gene Mutation, Syndromic116
PTPRBprotein tyrosine phosphatase, receptor type B12Rare Single Gene Mutation, Genetic Association33
PTPRCprotein tyrosine phosphatase, receptor type, C1Rare Single Gene Mutation, Genetic Association39
PTPRTprotein tyrosine phosphatase, receptor type, T20Rare Single Gene Mutation, Functional39
PXDNperoxidasin2Rare Single Gene Mutation35
PYHIN1Pyrin and HIN domain family, member 11Rare Single Gene Mutation24
QRICH1glutamine rich 13Rare Single Gene Mutation33
RAB11FIP5RAB11 family interacting protein 52Rare Single Gene Mutation35
RAB2ARAB2A, member RAS oncogene family8Rare Single Gene Mutation28
RAB39BRAB39B, member RAS oncogene familyXRare Single Gene Mutation312
RAB43RAB43, member RAS oncogene family3Rare Single Gene Mutation22
RAD21RAD21cohesin complex component8SyndromicS3
RAD21L1RAD21 cohesin complex component like 120Rare Single Gene Mutation32
RAI1retinoic acid induced 117Rare Single Gene Mutation, Syndromic121
RALARAS like proto-oncogene A7SyndromicS2
RALGAPBRal GTPase activating protein non-catalytic beta subunit20Rare Single Gene Mutation23
RANBP17RAN binding protein 175Rare Single Gene Mutation26
RAPGEF4Rap guanine nucleotide exchange factor (GEF) 42Rare Single Gene Mutation317
RASSF5Ras association domain family member 51Rare Single Gene Mutation, Genetic Association33
RBFOX1RNA binding protein, fox-1 homolog (C. elegans) 116Rare Single Gene Mutation, Genetic Association234
RBM27RNA binding motif protein 275Rare Single Gene Mutation23
REEP3receptor accessory protein 310Rare Single Gene Mutation33
RELNReelin7Rare Single Gene Mutation, Syndromic, Genetic Association, Functional151
REREArginine-glutamic acid dipeptide (RE) repeats1Rare Single Gene Mutation, Syndromic, Genetic Association16
RFX3regulatory factor X39Rare Single Gene Mutation15
RGS7regulator of G-protein signaling 71Rare Single Gene Mutation36
RHEBRas homolog, mTORC1 binding7SyndromicS1
RHOXF1Rhox homeobox family, member 1XGenetic Association33
RIMS1Regulating synaptic membrane exocytosis 16Rare Single Gene Mutation, Genetic Association16
RIMS3regulating synaptic membrane exocytosis 31Rare Single Gene Mutation34
RIT2Ras-like without CAAX 218Genetic Association33
RNF135Ring finger protein 13517Rare Single Gene Mutation, Syndromic, Genetic Association3S4
RNF38ring finger protein 389Rare Single Gene Mutation32
ROBO2roundabout guidance receptor 23Rare Single Gene Mutation, Genetic Association, Functional28
RPL10ribosomal protein L10XRare Single Gene Mutation, Syndromic313
RPS6KA2ribosomal protein S6 kinase, 90kDa, polypeptide 26Rare Single Gene Mutation34
RPS6KA3Ribosomal protein S6 kinase, 90kDa, polypeptide 3XRare Single Gene Mutation, Syndromic3S9
SAE1SUMO1 activating enzyme subunit 119Rare Single Gene Mutation23
SAMD11sterile alpha motif domain containing 111Rare Single Gene Mutation32
SASH1SAM and SH3 domain containing 16Rare Single Gene Mutation32
SATB2SATB homeobox 22Rare Single Gene Mutation, Syndromic, Genetic Association3S27
RP11-1407O15.217Rare Single Gene Mutation31
SBF1SET binding factor 122Rare Single Gene Mutation29
SCFD2sec1 family domain containing 24Rare Single Gene Mutation32
SCN1Asodium channel, voltage-gated, type I, alpha subunit2Rare Single Gene Mutation, Syndromic, Genetic Association158
SCN2Asodium channel, voltage-gated, type II, alpha subunit2Rare Single Gene Mutation, Syndromic161
SCN4ASodium channel, voltage gated, type IV alpha subunit17Rare Single Gene Mutation34
SCN8Asodium channel, voltage gated, type VIII, alpha subunit12Rare Single Gene Mutation, Syndromic133
SCN9Asodium voltage-gated channel alpha subunit 92Rare Single Gene Mutation25
SCP2sterol carrier protein 21Rare Single Gene Mutation32
SDC2syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated, fibroglycan )8Rare Single Gene Mutation, Genetic Association34
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, Functional217
SETSETnuclear proto-oncogene9Rare Single Gene Mutation24
SETBP1SET binding protein 118Rare Single Gene Mutation, Syndromic113
SETD1BSET domain containing 1B12Rare Single Gene Mutation, Syndromic3S9
SETD2SET domain containing 23Rare Single Gene Mutation, Syndromic111
SETD5SET domain containing 53Rare Single Gene Mutation, Syndromic123
SETDB1SET domain, bifurcated 11Rare Single Gene Mutation33
SETDB2SET domain, bifurcated 213Rare Single Gene Mutation, Syndromic32
SEZ6L2SEZ6L2 seizure related 6 homolog (mouse)-like 216Rare Single Gene Mutation, Genetic Association36
SF3B1splicing factor 3b subunit 12Rare Single Gene Mutation34
SGSM3Small G protein signaling modulator 322Rare Single Gene Mutation35
SHANK1SH3 and multiple ankyrin repeat domains 119Rare Single Gene Mutation, Genetic Association27
SHANK2SH3 and multiple ankyrin repeat domains 211Rare Single Gene Mutation, Syndromic, Genetic Association, Functional133
SHANK3SH3 and multiple ankyrin repeat domains 322Rare Single Gene Mutation, Syndromic, Genetic Association, Functional177
SHOXshort stature homeoboxX,YRare Single Gene Mutation22
SIN3ASIN3 transcription regulator family member A15Rare Single Gene Mutation, Syndromic17
SLC12A5Solute carrier family 12 (potassium/chloride transporter), member 520Rare Single Gene Mutation25
SLC1A1solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 19Rare Single Gene Mutation, Genetic Association312
SLC22A9solute carrier family 22 member 911Rare Single Gene Mutation34
SLC24A2solute carrier family 24 member 29Rare Single Gene Mutation33
SLC25A12solute carrier family 25 (mitochondrial carrier, Aralar), member 122Rare Single Gene Mutation, Genetic Association, Functional321
SLC25A39solute carrier family 25 member 3917Rare Single Gene Mutation33
SLC27A4Solute carrier family 27 (fatty acid transporter), member 49Rare Single Gene Mutation31
SLC29A4solute carrier family 29 member 47Rare Single Gene Mutation31
SLC38A10solute carrier family 38, member 1017Rare Single Gene Mutation22
SLC4A10solute carrier family 4, sodium bicarbonate transporter-like, member 102Rare Single Gene Mutation, Genetic Association36
SLC6A1Solute carrier family 6 (neurotransmitter transporter), member 13Rare Single Gene Mutation, Syndromic, Genetic Association124
SLC6A3Solute carrier family 6 (neurotransmitter transporter), member 35Rare Single Gene Mutation, Genetic Association, Functional215
SLC6A4solute carrier family 6 (neurotransmitter transporter, serotonin), member 417Rare Single Gene Mutation, Genetic Association326
SLC6A8solute carrier family 6 (neurotransmitter transporter, creatine), member 8XRare Single Gene Mutation, Syndromic312
SLC7A3Solute carrier family 7 (cationic amino acid transporter, y+ system), member 3XRare Single Gene Mutation22
SLC7A5solute carrier family 7 member 516Functional22
SLC7A7solute carrier family 7 member 714Rare Single Gene Mutation33
SLC9A6solute carrier family 9 (sodium/hydrogen exchanger), member 6XRare Single Gene Mutation, Syndromic, Functional115
SLC9A9solute carrier family 9 (sodium/hydrogen exchanger), member 93Rare Single Gene Mutation, Genetic Association, Functional312
SLCO1B3Solute carrier organic anion transporter family, member 1B312Rare Single Gene Mutation33
SLITRK5SLIT and NTRK like family member 513Rare Single Gene Mutation, Functional29
SMAD4SMAD family member 418Rare Single Gene Mutation24
SMARCA4SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 419Rare Single Gene Mutation, Syndromic26
SMARCC2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 212Rare Single Gene Mutation, Syndromic, Functional111
SMC3structural maintenance of chromosomes 310Rare Single Gene Mutation, Syndromic3S9
SMG6SMG6, nonsense mediated mRNA decay factor17Rare Single Gene Mutation32
SMURF1SMAD specific E3 ubiquitin protein ligase 17Rare Single Gene Mutation32
SNAP25Synaptosomal-associated protein, 25kDa20Rare Single Gene Mutation, Genetic Association36
SND1staphylococcal nuclease and tudor domain containing 17Rare Single Gene Mutation, Genetic Association38
SNTG2syntrophin gamma 22Rare Single Gene Mutation36
SNX5sorting nexin 520Rare Single Gene Mutation23
SOX5SRY-box 512Rare Single Gene Mutation, Syndromic, Genetic Association113
SPARCL1SPARC like 14Rare Single Gene Mutation, Functional23
SPASTSpastin2Rare Single Gene Mutation110
SPENspenfamily transcriptional repressor1Rare Single Gene Mutation27
SPP2secreted phosphoprotein 22Rare Single Gene Mutation34
SRCAPSnf2 related CREBBP activator protein16Rare Single Gene Mutation15
SRGAP3SLIT-ROBO Rho GTPase activating protein 33Rare Single Gene Mutation34
SRSF11serine and arginine rich splicing factor 111Rare Single Gene Mutation24
SSPOSCO-spondin7Rare Single Gene Mutation34
SSRP1structure specific recognition protein 111Rare Single Gene Mutation32
ST7suppression of tumorigenicity 77Rare Single Gene Mutation34
ST8SIA2ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 215Rare Single Gene Mutation, Genetic Association29
STX1ASyntaxin 1A (brain)7Rare Single Gene Mutation, Genetic Association36
STXBP1Syntaxin binding protein 19Rare Single Gene Mutation, Syndromic, Functional140
STXBP5Syntaxin binding protein 5 (tomosyn)6Rare Single Gene Mutation26
STYK1Serine/threonine/tyrosine kinase 112Rare Single Gene Mutation, Genetic Association32
SYAP1Synapse associated protein 1XRare Single Gene Mutation32
SYN1Synapsin 1XRare Single Gene Mutation, Functional319
SYN2Synapsin II3Rare Single Gene Mutation, Genetic Association, Functional36
SYNCRIPsynaptotagmin binding cytoplasmic RNA interacting protein6Rare Single Gene Mutation36
SYNE1spectrin repeat containing, nuclear envelope 16Rare Single Gene Mutation, Genetic Association3S15
SYNGAP1synaptic Ras GTPase activating protein 16Rare Single Gene Mutation, Syndromic153
SERPINE1serpin family E member 17Genetic Association32
SLC22A15Solute carrier family 22, member 151Genetic Association31
SLC25A27solute carrier family 25 member 276Genetic Association31
SLC35B1solute carrier family 35 member B117Genetic Association21
SOD1superoxide dismutase 121Genetic Association, Functional32
STK39serine threonine kinase 39 (STE20/SPS1 homolog, yeast)2Genetic Association35
SYNJ1synaptojanin 121Rare Single Gene Mutation31
SYT17synaptotagmin XVII16Genetic Association32
TAF1CTATA-box binding protein associated factor, RNA polymerase I subunit C16Rare Single Gene Mutation, Genetic Association32
TAF6TATA-box binding protein associated factor 67Rare Single Gene Mutation23
TANC2etratricopeptide repeat, ankyrin repeat and coiled-coil containing 217Rare Single Gene Mutation16
TAOK2TAO kinase 216Rare Single Gene Mutation, Functional25
TBC1D23TBC1 domain family member 233SyndromicS2
TBC1D31TBC1 domain family, member 318Rare Single Gene Mutation24
TBC1D5TBC1 domain family, member 53Rare Single Gene Mutation, Genetic Association38
TBL1Xtransducin (beta)-like 1X-linkedXGenetic Association31
TBL1XR1transducin beta like 1 X-linked receptor 13Rare Single Gene Mutation, Syndromic220
TBR1T-box, brain, 12Rare Single Gene Mutation, Genetic Association125
TCF20Transcription factor 20 (AR1)22Rare Single Gene Mutation, Syndromic110
TCF4Transcription factor 418Rare Single Gene Mutation, Syndromic, Genetic Association144
TCF7L2Transcription factor 7-like 2 (T-cell specific, HMG-box)10Rare Single Gene Mutation23
TDO2tryptophan 2,3-dioxygenase4Genetic Association34
TECTAtectorin alpha11Rare Single Gene Mutation37
TERF2Telomeric repeat binding factor 216Rare Single Gene Mutation23
TET2Tet methylcytosine dioxygenase 24Rare Single Gene Mutation24
THBS1Thrombospondin 115Rare Single Gene Mutation, Genetic Association33
THRAthyroid hormone receptor alpha17Rare Single Gene Mutation, Functional34
TLK2tousled-like kinase 217Rare Single Gene Mutation, Syndromic113
TM4SF19transmembrane 4 L six family member 193Rare Single Gene Mutation33
TERB2telomere repeat binding bouquet formation protein 215Rare Single Gene Mutation31
TMEM39Btransmembrane protein 39B1Rare Single Gene Mutation34
TMLHEtrimethyllysine hydroxylase, epsilonXRare Single Gene Mutation, Genetic Association25
TNRC6BTrinucleotide repeat containing 6B22Rare Single Gene Mutation27
TOP3BTopoisomerase (DNA) III beta22Rare Single Gene Mutation, Genetic Association, Functional36
TPOThyroid peroxidase2Genetic Association31
TRAF7TNF receptor associated factor 716Rare Single Gene Mutation, Syndromic3S4
TRAPPC9trafficking protein particle complex 98Rare Single Gene Mutation, Syndromic213
TRIM33Tripartite motif containing 331Genetic Association31
TRIOTrio Rho guanine nucleotide exchange factor5Rare Single Gene Mutation, Syndromic123
TRIP12Thyroid hormone receptor interactor 122Rare Single Gene Mutation, Syndromic116
TRPC6Transient receptor potential cation channel, subfamily C, member 611Rare Single Gene Mutation23
TRPM1transient receptor potential cation channel subfamily M member 115Rare Single Gene Mutation24
TRRAPtransformation/transcription domain associated protein7Rare Single Gene Mutation, Syndromic3S8
TSC1tuberous sclerosis 19Rare Single Gene Mutation, Syndromic120
TSC2tuberous sclerosis 216Rare Single Gene Mutation, Syndromic, Genetic Association130
TSHZ3teashirt zinc finger homeobox 319Rare Single Gene Mutation, Functional13
TSPAN17tetraspanin 175Rare Single Gene Mutation33
TSPAN4tetraspanin 411Rare Single Gene Mutation33
TSPAN7tetraspanin 7XRare Single Gene Mutation37
TSPOAP1TSPO associated protein 117Rare Single Gene Mutation35
TTC25tetratricopeptide repeat domain 2517Genetic Association31
TTNtitin2Rare Single Gene Mutation, Syndromic3S19
TUBGCP5tubulin, gamma complex associated protein 515Rare Single Gene Mutation34
UBE2Hubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)7Genetic Association32
UBE3Aubiquitin protein ligase E3A15Rare Single Gene Mutation, Syndromic, Genetic Association127
UBE3CUbiquitin protein ligase E3C7Rare Single Gene Mutation24
UBN2ubinuclein 27Rare Single Gene Mutation23
UBR5ubiquitin protein ligase E3 component n-recognin 58Rare Single Gene Mutation27
UIMC1ubiquitin interaction motif containing 15Rare Single Gene Mutation33
UNC13Aunc-13 homolog A19Rare Single Gene Mutation, Syndromic3S6
UNC79unc-79 homolog, NALCN channel complex subunit14Rare Single Gene Mutation24
UNC80unc-80 homolog, NALCN activator2Rare Single Gene Mutation35
UPF3BUPF3B, regulator of nonsense mediated mRNA decayXRare Single Gene Mutation, Syndromic112
USH2Ausherin1Rare Single Gene Mutation36
USP15ubiquitin specific peptidase 1512Rare Single Gene Mutation23
USP45Ubiquitin specific peptidase 456Rare Single Gene Mutation23
USP7Ubiquitin specific peptidase 7 (herpes virus-associated)16Rare Single Gene Mutation, Syndromic2S7
USP9Yubiquitin specific peptidase 9, Y-linkedYRare Single Gene Mutation, Genetic Association32
VASH1vasohibin 114Genetic Association34
VDRvitamin D receptor12Genetic Association, Functional37
VIL1Villin 12Rare Single Gene Mutation22
VPS13Bvacuolar protein sorting 13 homolog B (yeast)8Rare Single Gene Mutation, Syndromic120
VSIG4V-set and immunoglobulin domain containing 4XRare Single Gene Mutation32
WACWW domain containing adaptor with coiled-coil10Rare Single Gene Mutation, Syndromic117
WASF1WAS protein family member 16SyndromicS1
WDFY3WD repeat and FYVE domain containing 34Rare Single Gene Mutation, Syndromic, Functional116
WDFY4WDFY family member 410Rare Single Gene Mutation26
WNK3WNK lysine deficient protein kinase 3XRare Single Gene Mutation36
WNT1Wingless-type MMTV integration site family, member 112Genetic Association33
WWOXWW domain containing oxidoreductase16Rare Single Gene Mutation, Syndromic29
XPO1Exportin 1 (CRM1 homolog, yeast)2Rare Single Gene Mutation, Genetic Association35
YEATS2YEATS domain containing 23Rare Single Gene Mutation, Genetic Association32
YTHDC2YTH domain containing 25Rare Single Gene Mutation, Genetic Association35
YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon17Rare Single Gene Mutation35
ZBTB16Zinc finger and BTB domain containing 1611Genetic Association31
ZBTB20Zinc finger and BTB domain containing 203Rare Single Gene Mutation, Syndromic122
ZC3H11Azinc finger CCCH-type containing 11A1Rare Single Gene Mutation33
ZC3H4zinc finger CCCH-type containing 419Rare Single Gene Mutation23
ZFYVE26zinc finger FYVE-type containing 2614Rare Single Gene Mutation34
ZMYND11Zinc finger, MYND-type containing 1110Rare Single Gene Mutation, Syndromic210
ZNF18zinc finger protein 1817Rare Single Gene Mutation31
ZNF292zinc finger protein 2926Rare Single Gene Mutation14
ZNF385BZinc finger protein 385B2Genetic Association32
ZNF462Zinc finger protein 4629Rare Single Gene Mutation, Syndromic19
ZNF517Zinc finger protein 5178Rare Single Gene Mutation33
ZNF548zinc finger protein 54819Rare Single Gene Mutation32
ZNF559Zinc finger protein 55919Rare Single Gene Mutation34
ZNF626zinc finger protein 62619Rare Single Gene Mutation32
ZNF713Zinc finger protein 7137Rare Single Gene Mutation32
ZNF774Zinc finger protein 77415Rare Single Gene Mutation33
ZNF804AZinc finger protein 804A2Rare Single Gene Mutation, Genetic Association213
ZNF827Zinc finger protein 8274Genetic Association31
ZWILCHzwilchkinetochore protein15Rare Single Gene Mutation34
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