Human Gene Module 1095 total genes

Database updated on February 23, 2022

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Status Gene Symbol Gene Name Chromosome Genetic Category Gene Score Syndromic EAGLE Score reports
ABAT4-aminobutyrate aminotransferase16Rare Single Gene Mutation, Genetic Association26
ABCA10ATP-binding cassette, sub-family A (ABC1), member 1017Rare Single Gene Mutation21
ABCA13ATP binding cassette subfamily A member 137Rare Single Gene Mutation, Functional29
ABCA7ATP-binding cassette, sub-family A (ABC1), member 719Rare Single Gene Mutation24
ABL2ABL proto-oncogene 2, non-receptor tyrosine kinase1Rare Single Gene Mutation, Functional310
ACEangiotensin I converting enzyme17Rare Single Gene Mutation, Genetic Association24
ACHEAcetylcholinesterase (Yt blood group)7Rare Single Gene Mutation26
ACTBactin beta7Rare Single Gene Mutation, Syndromic1S17
ACTL6Bactin like 6B7Rare Single Gene Mutation, SyndromicS12
ACTN4actinin alpha 419Rare Single Gene Mutation25
ACY1aminoacylase 13Rare Single Gene Mutation, SyndromicS9
ADAadenosine deaminase20Rare Single Gene Mutation, Genetic Association27
ADCY3adenylate cyclase 32Rare Single Gene Mutation22
ADCY5Adenylate cyclase 53Rare Single Gene Mutation28
ADGRL1adhesion G protein-coupled receptor L119Rare Single Gene Mutation, SyndromicS5
ADKadenosine kinase10Rare Single Gene Mutation22
ADNPActivity-dependent neuroprotector homeobox20Rare Single Gene Mutation, Syndromic, Functional1S41.562
ADORA3Adenosine A3 receptor1Rare Single Gene Mutation, Functional22
ADSLadenylosuccinate lyase22Rare Single Gene Mutation, Syndromic1S0.358
ADSS2adenylosuccinate synthase 21Rare Single Gene Mutation23
AFF2AF4/FMR2 family, member 2XRare Single Gene Mutation, Syndromic18.719
AGAP1ArfGAP with GTPase domain, ankyrin repeat and PH domain 12Rare Single Gene Mutation28
AGAP2ArfGAP with GTPase domain, ankyrin repeat and PH domain 212Rare Single Gene Mutation25
AGAP5ArfGAP with GTPase domain, ankyrin repeat and PH domain 510Rare Single Gene Mutation31
AGBL4ATP/GTP binding protein-like 41Rare Single Gene Mutation23
AGMOalkylglycerol monooxygenase7Rare Single Gene Mutation, Genetic Association27
AGO1argonaute 1, RISC catalytic component1Rare Single Gene Mutation29
AGO2argonaute RISC catalytic component 28Syndromic21
AGO3argonaute RISC catalytic component 31Rare Single Gene Mutation25
AGO4argonaute RISC catalytic component 41Rare Single Gene Mutation23
AGTR2angiotensin II receptor, type 2XRare Single Gene Mutation25
AHDC1AT-hook DNA binding motif containing 11Rare Single Gene Mutation, Syndromic1S14.2523
AHI1Abelson helper integration site 16Rare Single Gene Mutation, Syndromic, Genetic AssociationS19
AHNAKAHNAKnucleoprotein11Rare Single Gene Mutation25
AKAP9A kinase (PRKA) anchor protein 97Rare Single Gene Mutation25
ALDH1A3aldehyde dehydrogenase 1 family member A315Rare Single Gene Mutation, SyndromicS5
ALDH1L1aldehyde dehydrogenase 1 family member L13Rare Single Gene Mutation36
ALDH5A1aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase )6Rare Single Gene Mutation, Syndromic1S2.3513
ALG6ALG6, alpha-1,3-glucosyltransferase1Rare Single Gene Mutation, SyndromicS2
AMPD1Adenosine monophosphate deaminase 11Rare Single Gene Mutation, Genetic Association23
AMTAminomethyltransferase3Rare Single Gene Mutation21
ANK2Ankyrin 2, neuronal4Rare Single Gene Mutation, Functional110.821
ANK3ankyrin 310Rare Single Gene Mutation, Genetic Association17.328
ANKRD11ankyrin repeat domain 1116Rare Single Gene Mutation, Syndromic1S22.660
ANKRD17ankyrin repeat domain 174Rare Single Gene Mutation, Syndromic2S5
ANKS1Bankyrin repeat and sterile alpha motif domain containing 1B12Rare Single Gene Mutation, Syndromic2S4
ANXA1Annexin A19Rare Single Gene Mutation22
AP1S2adaptor related protein complex 1 sigma 2 subunitXRare Single Gene Mutation, SyndromicS7
AP2S1adaptor related protein complex 2 subunit sigma 119Rare Single Gene Mutation10.22
APBA2amyloid beta (A4) precursor protein-binding, family A, member 215Rare Single Gene Mutation27
APBB1amyloid beta precursor protein binding family B member 111Rare Single Gene Mutation, Functional23
APH1AAPH1A gamma secretase subunit1Rare Single Gene Mutation23
ARHGAP11BRho GTPase activating protein 11B15Rare Single Gene Mutation23
ARHGAP32Rho GTPase activating protein 3211Rare Single Gene Mutation, Functional28
ARHGAP5Rho GTPase activating protein 514Rare Single Gene Mutation25
ARHGEF10Rho guanine nucleotide exchange factor 108Rare Single Gene Mutation, Functional25
ARHGEF2Rho/Rac guanine nucleotide exchange factor 21Rare Single Gene Mutation, Syndromic37
ARHGEF9Cdc42 guanine nucleotide exchange factor (GEF) 9XRare Single Gene Mutation, Syndromic1S14.216
ARID1BAT-rich interaction domain 1B6Rare Single Gene Mutation, Syndromic, Functional1S34.7568
ARID2AT-rich interaction domain 212Rare Single Gene Mutation, Syndromic2S11
ARNT2aryl-hydrocarbon receptor nuclear translocator 215Rare Single Gene Mutation, Syndromic, Genetic Association, Functional214
ARXaristaless related homeoboxXRare Single Gene Mutation, Syndromic1S13.823
ASAP2ArfGAP with SH3 domain, ankyrin repeat and PH domain 22Rare Single Gene Mutation23
ASB14ankyrin repeat and SOCS box containing 143Rare Single Gene Mutation24
ASH1LAsh1 (absent, small, or homeotic)-like (Drosophila)1Rare Single Gene Mutation, Syndromic, Genetic Association, Functional114.1528
ASMTacetylserotonin O-methyltransferaseX,YRare Single Gene Mutation, Genetic Association210
ASPMabnormal spindle microtubule assembly1Rare Single Gene Mutation, Syndromic, Functional29
ASTN2astrotactin 29Rare Single Gene Mutation, Genetic Association22.518
ASXL3Additional sex combs like 3 (Drosophila)18Rare Single Gene Mutation, Syndromic1S28.8539
ADORA2Aadenosine A2a receptor22Genetic Association27
ADRB2adrenergic, beta-2-, receptor, surface5Genetic Association210
ARandrogen receptorXGenetic Association26
ATP10AProbable phospholipid-transporting ATPase VA15Rare Single Gene Mutation, Genetic Association, Functional29
ATP1A1ATPase Na+/K+ transporting subunit alpha 11Rare Single Gene Mutation, Syndromic2S7
ATP1A3ATPase Na+/K+ transporting subunit alpha 319Rare Single Gene Mutation, Syndromic, Functional2S20
ATP2B1ATPase plasma membrane Ca2+ transporting 112Syndromic31
ATP2B2ATPase, Ca++ transporting, plasma membrane 23Rare Single Gene Mutation, Genetic Association211
ATP6V0A2ATPase H+ transporting V0 subunit a212Rare Single Gene Mutation24
ATRXalpha thalassemia/mental retardation syndrome X-linkedXRare Single Gene Mutation, Syndromic128
AUTS2autism susceptibility candidate 27Rare Single Gene Mutation, Syndromic, Genetic Association, Functional135.553
AVPR1Aarginine vasopressin receptor 1A12Rare Single Gene Mutation, Genetic Association224
AZGP1alpha-2-glycoprotein 1, zinc-binding7Rare Single Gene Mutation23
BACE1beta-secretase 111Rare Single Gene Mutation, Functional34
BAIAP2L1BAR/IMD domain containing adaptor protein 2 like 17Rare Single Gene Mutation36
BAZ2Bbromodomain adjacent to zinc finger domain 2B2Rare Single Gene Mutation17.356
BBS4Bardet-Biedl syndrome 415Rare Single Gene Mutation, Syndromic25
BCAS1breast carcinoma amplified sequence 120Rare Single Gene Mutation25
BCKDKBranched chain ketoacid dehydrogenase kinase16Rare Single Gene Mutation13.16
BCL11AB-cell CLL/lymphoma 11A (zinc finger protein)2Rare Single Gene Mutation, Syndromic, Functional1S9.1523
BCORL1BCL6 corepressor like 1XRare Single Gene Mutation, SyndromicS7
BICRABRD4 interacting chromatin remodeling complex associated protein19Syndromic21
BIRC6Baculoviral IAP repeat containing 62Rare Single Gene Mutation211
BRAFv-raf murine sarcoma viral oncogene homolog B7Rare Single Gene Mutation, Syndromic1S15
BRCA2breast cancer 2, early onset13Rare Single Gene Mutation25
BRD4bromodomain containing 419Rare Single Gene Mutation, Syndromic, Functional28
BRINP3BMP/retinoic acid inducible neural specific 31Rare Single Gene Mutation, Functional32
BRSK2BR serine/threonine kinase 211Rare Single Gene Mutation, Syndromic1S7.77
BRWD3bromodomain and WD repeat domain containing 3XRare Single Gene Mutation, SyndromicS8
BST1bone marrow stromal cell antigen 14Genetic Association, Functional25
BTAF1RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae)10Rare Single Gene Mutation27
BTRCbeta-transducin repeat containing E3 ubiquitin protein ligase10Rare Single Gene Mutation23
C12orf57Chromosome 12 open reading frame 5712Rare Single Gene Mutation, SyndromicS11
C15orf62chromosome 15 open reading frame 6215Rare Single Gene Mutation22
C4Bcomplement component 4B6Rare Single Gene Mutation, Genetic Association, Functional26
CA6carbonic anhydrase VI1Rare Single Gene Mutation26
CACNA1ACalcium channel, voltage-dependent, P/Q type, alpha 1A subunit19Rare Single Gene Mutation, Genetic Association, Functional1S28
CACNA1Bcalcium voltage-gated channel subunit alpha1 B9Rare Single Gene Mutation, Syndromic, Genetic Association212
CACNA1Ccalcium channel, voltage-dependent, L type, alpha 1C subunit12Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S55
CACNA1Dcalcium channel, voltage-dependent, L type, alpha 1D3Rare Single Gene Mutation, Syndromic, Genetic Association, Functional225
CACNA1Ecalcium voltage-gated channel subunit alpha1 E1Rare Single Gene Mutation118
CACNA1Fcalcium channel, voltage-dependent, alpha 1FXRare Single Gene Mutation, Genetic Association29
CACNA1Gcalcium channel, voltage-dependent, T type, alpha 1G subunit17Rare Single Gene Mutation, Syndromic, Genetic Association223
CACNA1Hcalcium channel, voltage-dependent, alpha 1H subunit16Rare Single Gene Mutation231
CACNA1ICalcium channel, voltage-dependent, T type, alpha 1I subunit22Rare Single Gene Mutation, Genetic Association29
CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 17Rare Single Gene Mutation, Syndromic27
CACNA2D3Calcium channel, voltage-dependent, alpha 2/delta subunit 33Rare Single Gene Mutation, Functional13.7511
AVPR1Barginine vasopressin receptor 1B1Genetic Association, Functional28
BICDL1BICD family like cargo adaptor 112Genetic Association22
CACNB1calcium voltage-gated channel auxiliary subunit beta 117Rare Single Gene Mutation33
CACNB2Calcium channel, voltage-dependent, beta 2 subunit10Rare Single Gene Mutation, Genetic Association29
CADM1cell adhesion molecule 111Rare Single Gene Mutation210
CADM2Cell adhesion molecule 23Rare Single Gene Mutation, Genetic Association25
CADPScalcium dependent secretion activator3Rare Single Gene Mutation, Genetic Association24
CADPS2Ca2+-dependent activator protein for secretion 27Rare Single Gene Mutation, Functional212
CAMK2Acalcium/calmodulin dependent protein kinase II alpha5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional2S10
CAMK2Bcalcium/calmodulin dependent protein kinase II beta7Rare Single Gene Mutation, SyndromicS8
CAMK4calcium/calmodulin dependent protein kinase IV5Rare Single Gene Mutation, Genetic Association24
CAPN12Calpain 1219Rare Single Gene Mutation26
CAPRIN1Cell cycle associated protein 111Rare Single Gene Mutation, Syndromic, Functional15.55
CARD11caspase recruitment domain family member 117Rare Single Gene Mutation21
CASKcalcium/calmodulin dependent serine protein kinaseXRare Single Gene Mutation, Syndromic120
CASKIN1CASK interacting protein 116Rare Single Gene Mutation, Functional27
CASZ1castor zinc finger 11Rare Single Gene Mutation19.555
CATcatalase11Rare Single Gene Mutation, Functional34
CC2D1ACoiled-coil and C2 domain containing 1A19Rare Single Gene Mutation, Functional214
CCDC88CCoiled-coil domain containing 88C14Rare Single Gene Mutation27
CCDC91coiled-coil domain containing 9112Rare Single Gene Mutation24
CCINcalicin9Rare Single Gene Mutation22
CCNG1cyclin G15Rare Single Gene Mutation21
CCNKcyclin K14Rare Single Gene Mutation, SyndromicS4
CCSER1coiled-coil serine rich protein 14Rare Single Gene Mutation23
CCT4Chaperonin containing TCP1, subunit 4 (delta)2Rare Single Gene Mutation23
CD276CD276molecule15Rare Single Gene Mutation22
CD38CD38 molecule4Rare Single Gene Mutation, Genetic Association, Functional29
CD99L2CD99 molecule like 2XGenetic Association21
CDC42BPBCDC42 binding protein kinase beta (DMPK-like)14Rare Single Gene Mutation, Syndromic210
CDH10cadherin 10, type 2 (T2-cadherin)5Rare Single Gene Mutation, Genetic Association210
CDH11cadherin 1116Rare Single Gene Mutation, Syndromic, Functional27
CDH13cadherin 1316Rare Single Gene Mutation25
CDH22cadherin-like 2220Genetic Association24
CDH8cadherin 8, type 216Rare Single Gene Mutation210
CDH9cadherin 9, type 2 (T1-cadherin)5Rare Single Gene Mutation, Genetic Association27
CDK13cyclin dependent kinase 137Rare Single Gene Mutation, SyndromicS16
CDK19cyclin dependent kinase 196Rare Single Gene Mutation, Syndromic3S6
CDK5RAP2CDK5 regulatory subunit associated protein 29Rare Single Gene Mutation, Syndromic313
CDK8cyclin dependent kinase 813Rare Single Gene Mutation, SyndromicS3
CDKL5cyclin-dependent kinase-like 5XRare Single Gene Mutation, Syndromic, Functional1S48
CDONcell adhesion associated, oncogene regulated11Rare Single Gene Mutation32
CECR2CECR2, histone acetyl-lysine reader22Rare Single Gene Mutation22
CELF2CUGBP Elav-like family member 210Rare Single Gene Mutation, Syndromic2S3
CELF4CUGBP, Elav-like family member 418Rare Single Gene Mutation, Functional18.513
CELF6CUGBP, Elav-like family member 615Rare Single Gene Mutation, Genetic Association24
CEP135centrosomal protein 1354Rare Single Gene Mutation, Syndromic26
CEP290Centrosomal protein 290kDa12Rare Single Gene Mutation, Syndromic2S10
CEP41testis specific, 147Rare Single Gene Mutation, Syndromic25
CGNL1Cingulin-like 115Rare Single Gene Mutation25
CHAMP1chromosome alignment maintaining phosphoprotein 113Rare Single Gene Mutation, Syndromic1S11
CHD1chromodomain helicase DNA binding protein 15Rare Single Gene Mutation2S6
CHD2Chromodomain helicase DNA binding protein 215Rare Single Gene Mutation, Syndromic1S2567
CHD3chromodomain helicase DNA binding protein 317Rare Single Gene Mutation, Syndromic1S11
CHD7chromodomain helicase DNA binding protein 78Rare Single Gene Mutation, Syndromic, Functional1S8.136
CHD8chromodomain helicase DNA binding protein 814Rare Single Gene Mutation, Syndromic, Functional1S97.6578
CHD9chromodomain helicase DNA binding protein 916Rare Single Gene Mutation35
CHKBCholine kinase beta22Rare Single Gene Mutation, SyndromicS7
CHMCHMRab escort proteinXRare Single Gene Mutation36
CHMP1Acharged multivesicular body protein 1A16Rare Single Gene Mutation, Syndromic25
CHRM3cholinergic receptor muscarinic 31Rare Single Gene Mutation, Genetic Association26
CHRNA7cholinergic receptor, nicotinic, alpha 715Rare Single Gene Mutation215
CHRNB3cholinergic receptor nicotinic beta 3 subunit8Rare Single Gene Mutation23
CHST2carbohydrate sulfotransferase 23Rare Single Gene Mutation33
CIB2Calcium and integrin binding family member 215Rare Single Gene Mutation22
CICcapicua transcriptional repressor19Rare Single Gene Mutation, Functional1S18.78
CLASP1cytoplasmic linker associated protein 12Rare Single Gene Mutation23
CLCN4chloride voltage-gated channel 4XRare Single Gene Mutation, Syndromic2S8
CLN8Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)8Rare Single Gene Mutation, Syndromic24
CLTCL1clathrin, heavy chain-like 122Rare Single Gene Mutation26
CMIPc-Maf inducing protein16Rare Single Gene Mutation, Genetic Association26
CMPK2cytidine/uridine monophosphate kinase 22Rare Single Gene Mutation23
CNGB3cyclic nucleotide gated channel beta 38Rare Single Gene Mutation24
CNKSR2connector enhancer of kinase suppressor of Ras 2XRare Single Gene Mutation, Syndromic, Functional2S12
CNOT1CCR4-NOT transcription complex subunit 116Rare Single Gene Mutation, Syndromic27
CNOT3CCR4-NOT transcription complex subunit 319Rare Single Gene Mutation, Syndromic1S5.614
CNR1cannabinoid receptor 1 (brain)6Rare Single Gene Mutation, Genetic Association27
CNTN3contactin 33Rare Single Gene Mutation26
CNTN4contactin 43Rare Single Gene Mutation, Syndromic, Genetic Association, Functional225
CNTN5Contactin 511Rare Single Gene Mutation, Genetic Association210
CNTN6Contactin 63Rare Single Gene Mutation, Genetic Association214
CNTNAP2contactin associated protein-like 27Rare Single Gene Mutation, Syndromic, Genetic Association, Functional2S82
CNTNAP3contactin associated protein-like 39Rare Single Gene Mutation, Functional26
CNTNAP4Contactin associated protein-like 416Rare Single Gene Mutation, Functional213
CNTNAP5contactin associated protein-like 52Rare Single Gene Mutation, Genetic Association213
COL28A1collagen type XXVIII alpha 1 chain7Rare Single Gene Mutation23
CORO1Acoronin 1A16Rare Single Gene Mutation10.72
CPT2carnitine palmitoyltransferase 21Rare Single Gene Mutation22
CPZcarboxypeptidase Z4Rare Single Gene Mutation23
CREBBPCREB binding protein16Rare Single Gene Mutation, Syndromic, Genetic Association1S31.3534
CSDE1cold shock domain containing E11Rare Single Gene Mutation, Syndromic1S15.554
CSMD1CUB and Sushi multiple domains 18Rare Single Gene Mutation, Genetic Association215
CSMD3CUB and Sushi multiple domains 38Rare Single Gene Mutation, Functional38
CSNK1Ecasein kinase 1 epsilon22Rare Single Gene Mutation, Functional26
CSNK1G1casein kinase 1 gamma 115Rare Single Gene Mutation, Syndromic32
CSNK2A1casein kinase 2 alpha 120Rare Single Gene Mutation, Syndromic, Functional16.215
CSNK2Bcasein kinase 2 beta6Rare Single Gene Mutation, SyndromicS10
CTCFCCCTC-binding factor16Rare Single Gene Mutation, Syndromic, Functional1S10.4521
CTNNA2catenin alpha 22Rare Single Gene Mutation, SyndromicS4
CTNNA3catenin (cadherin-associated protein), alpha 310Rare Single Gene Mutation, Genetic Association216
CTNNB1catenin beta 13Rare Single Gene Mutation, Syndromic132.7530
CTNND2Catenin (cadherin-associated protein), delta 25Rare Single Gene Mutation, Functional29
CTR9CTR9homolog, Paf1/RNA polymerase II complex component11Rare Single Gene Mutation, Syndromic38
CTTNBP2cortactin binding protein 27Rare Single Gene Mutation, Syndromic, Functional212
CUL3Cullin 32Rare Single Gene Mutation, Genetic Association, Functional118.426
CUL7Cullin 76Rare Single Gene Mutation27
CUX1cut like homeobox 17Rare Single Gene Mutation, Functional29
CUX2cut like homeobox 212Rare Single Gene Mutation, Syndromic2S11
CX3CR1Chemokine (C-X3-C motif) receptor 13Rare Single Gene Mutation, Functional23
CYFIP1cytoplasmic FMR1 interacting protein 115Rare Single Gene Mutation, Genetic Association, Functional218
CYLC2cylicin, basic protein of sperm head cytoskeleton 29Rare Single Gene Mutation23
CYP27A1cytochrome P450 family 27 subfamily A member 12Rare Single Gene Mutation, SyndromicS5
DAGLAdiacylglycerol lipase alpha11Rare Single Gene Mutation, Functional26
DAPP1Dual adaptor of phosphotyrosine and 3-phosphoinositides4Rare Single Gene Mutation22
DDCdopa decarboxylase7Rare Single Gene Mutation, Genetic Association24
CLIP2CAP-Gly domain containing linker protein 27Genetic Association31
CPEB4cytoplasmic polyadenylation element binding protein 45Functional21
CYP11B1cytochrome P450, family 11, subfamily B, polypeptide 18Syndromic24
DCCDCCnetrin 1 receptor18Genetic Association23
DDHD2DDHD domain containing 28Rare Single Gene Mutation, Genetic Association, Functional24
DDX23DEAD-box helicase 2312Rare Single Gene Mutation, SyndromicS2
DDX3XDEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linkedXRare Single Gene Mutation, Syndromic, Functional1S41
DDX53DEAD (Asp-Glu-Ala-Asp) box polypeptide 53XRare Single Gene Mutation25.253
DEAF1DEAF1 transcription factor11Rare Single Gene Mutation, Syndromic1S30.924
DENRdensity-regulated protein12Rare Single Gene Mutation, Functional24
DEPDC5DEP domain containing 522Rare Single Gene Mutation, SyndromicS17
DHCR77-dehydrocholesterol reductase11Rare Single Gene Mutation, Syndromic1S18
DHX30DExH-box helicase 303Rare Single Gene Mutation, SyndromicS6
DIP2ADIP2 disco-interacting protein 2 homolog A (Drosophila)21Rare Single Gene Mutation, Functional110
DIP2Cdisco interacting protein 2 homolog C10Rare Single Gene Mutation24
DIPK2Adivergent protein kinase domain 2A3Rare Single Gene Mutation23
DISC1disrupted in schizophrenia 11Rare Single Gene Mutation, Syndromic, Genetic Association234
DIXDC1DIX domain containing 111Rare Single Gene Mutation, Functional24
DLG1discs large MAGUK scaffold protein 13Rare Single Gene Mutation25
DLG2discs large MAGUK scaffold protein 211Rare Single Gene Mutation, Functional210
DLG4discs large MAGUK scaffold protein 417Rare Single Gene Mutation, Syndromic, Functional12.4517
DLGAP1DLG associated protein 118Rare Single Gene Mutation, Functional211
DLGAP2discs, large (Drosophila) homolog-associated protein 28Rare Single Gene Mutation22.816
DLGAP3DLG associated protein 31Rare Single Gene Mutation, Genetic Association, Functional210
DLL1delta like canonical Notch ligand 16Rare Single Gene Mutation, Syndromic2S3
DLX3distal-less homeobox 317Rare Single Gene Mutation23
DLX6distal-less homeobox 67Rare Single Gene Mutation29
DMDdystrophin (muscular dystrophy, Duchenne and Becker types)XRare Single Gene Mutation, Syndromic, Genetic AssociationS40
DMPKdystrophia myotonica-protein kinase19Rare Single Gene Mutation, Syndromic1S3.7510
DMWDDM1 locus, WD repeat containing19Rare Single Gene Mutation22
DMXL2Dmx-like 215Rare Single Gene Mutation27
DNAH10Dynein, axonemal, heavy chain 1012Rare Single Gene Mutation28
DNAH17dynein axonemal heavy chain 1717Rare Single Gene Mutation27
DNAH3dynein axonemal heavy chain 316Rare Single Gene Mutation26
DNERDelta/notch-like EGF repeat containing2Rare Single Gene Mutation, Genetic Association23
DNMT3ADNA (cytosine-5-)-methyltransferase 3 alpha2Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S15.925
DOCK1Dedicator of cytokinesis 110Rare Single Gene Mutation23
DOCK4Dedicator of cytokinesis 47Rare Single Gene Mutation, Genetic Association, Functional210
DOCK8dedicator of cytokinesis 89Rare Single Gene Mutation211
DOLKdolichol kinase9SyndromicS2
DPP10Dipeptidyl-peptidase 102Rare Single Gene Mutation211
DPP3dipeptidyl peptidase 311Rare Single Gene Mutation23
DPP4Dipeptidyl-peptidase 42Rare Single Gene Mutation, Genetic Association26
DPP6dipeptidyl-peptidase 67Rare Single Gene Mutation, Genetic Association, Functional226
DPYDdihydropyrimidine dehydrogenase1Rare Single Gene Mutation, Syndromic, Genetic Association213
DPYSL2dihydropyrimidinase like 28Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1115
DPYSL3dihydropyrimidinase like 35Rare Single Gene Mutation22
DRD2Dopamine receptor D211Rare Single Gene Mutation, Genetic Association26
DRD3dopamine receptor D33Rare Single Gene Mutation, Genetic Association28
DSCAMDown syndrome cell adhesion molecule21Rare Single Gene Mutation, Genetic Association, Functional113.515
DSTDystonin6Rare Single Gene Mutation29
DUSP15dual specificity phosphatase 1520Rare Single Gene Mutation, Genetic Association25
DVL3Dishevelled segment polarity protein 33Rare Single Gene Mutation, Functional24
DYDC1DPY30 domain containing 110Rare Single Gene Mutation22
DYDC2DPY30 domain containing 21021
DYNC1H1dynein cytoplasmic 1 heavy chain 114Rare Single Gene Mutation, Syndromic, Functional113.4526
DLX2distal-less homeobox 22Genetic Association211
DRD1Dopamine receptor D15Genetic Association, Functional24
DYRK1ADual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A21Rare Single Gene Mutation, Syndromic, Functional1S20.264
EBF3early B-cell factor 310Rare Single Gene Mutation, Syndromic, Functional1S9.7517
ECPASEcm29 proteasome adaptor and scaffold9Rare Single Gene Mutation, Functional24
EEF1A2Eukaryotic translation elongation factor 1 alpha 220Rare Single Gene Mutation, SyndromicS16
EFR3AEFR3 homolog A (S. cerevisiae)8Rare Single Gene Mutation26
EGR3early growth response 38Rare Single Gene Mutation22
EHMT1Euchromatic histone-lysine N-methyltransferase 19Rare Single Gene Mutation, Syndromic, Functional1S13.533
EIF3Geukaryotic translation initiation factor 3 subunit G19Rare Single Gene Mutation11.54
EIF4Eeukaryotic translation initiation factor 4E4Rare Single Gene Mutation, Genetic Association23.612
EIF4G1eukaryotic translation initiation factor 4 gamma 13Rare Single Gene Mutation, Functional33
ELAVL2ELAV like neuron-specific RNA binding protein 29Rare Single Gene Mutation, Genetic Association, Functional26
ELAVL3ELAV like neuron-specific RNA binding protein 319Rare Single Gene Mutation115
ELOVL2ELOVL fatty acid elongase 26Genetic Association21
ELP2elongator acetyltransferase complex subunit 218Syndromic2S6
ELP4Elongator acetyltransferase complex subunit 411Rare Single Gene Mutation, Genetic Association27
EMSYEMSY, BRCA2 interacting transcriptional repressor11Rare Single Gene Mutation, Functional24
EN2engrailed homolog 27Rare Single Gene Mutation, Genetic Association, Functional225
ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 16Rare Single Gene Mutation34
EP300E1A binding protein p30022Rare Single Gene Mutation, Syndromic1S20
EP400E1A binding protein p40012Rare Single Gene Mutation27
EPC2Enhancer of polycomb homolog 2 (Drosophila)2Rare Single Gene Mutation25
EPHA1EPH receptor A17Rare Single Gene Mutation26
EPHB1EPH receptor B13Rare Single Gene Mutation39
EPHB2EPH receptor B21Rare Single Gene Mutation27
EPPK1epiplakin 18Rare Single Gene Mutation26
ERBINerbb2 interacting protein5Rare Single Gene Mutation27
ERGERG, ETS transcription factor21Genetic Association21
ERMNermin2Rare Single Gene Mutation21
ESR2estrogen receptor 2 (ER beta)14Rare Single Gene Mutation, Syndromic, Genetic Association29
ESRRBestrogen-related receptor beta14Rare Single Gene Mutation, Genetic Association28
ETFBElectron-transfer-flavoprotein, beta polypeptide19Rare Single Gene Mutation24
EXOC3exocyst complex component 35Rare Single Gene Mutation22
EXOC5exocyst complex component 514Rare Single Gene Mutation22
EXOC6exocyst complex component 610Rare Single Gene Mutation22
EXOC6Bexocyst complex component 6B2Rare Single Gene Mutation24
EXT1Exostosin 18Rare Single Gene Mutation, Genetic Association26
FABP4fatty acid binding protein 48Rare Single Gene Mutation32
FABP5fatty acid binding protein 5 (psoriasis-associated)8Rare Single Gene Mutation, Functional27
FAM47Afamily with sequence similarity 47 member AXRare Single Gene Mutation21
FAM98Cfamily with sequence similarity 98 member C19Rare Single Gene Mutation22
FAN1FANCD2/FANCI-associated nuclease 115Rare Single Gene Mutation, Genetic Association, Functional23
FAT1FAT atypical cadherin 14Rare Single Gene Mutation, Functional29
FBN1Fibrillin 115Rare Single Gene Mutation212
FBRSL1fibrosin like 112SyndromicS1
FBXO11F-box protein 112Rare Single Gene Mutation, Syndromic2S9
FBXO33F-box protein 3314Rare Single Gene Mutation, Genetic Association24
FBXO40F-box protein 403Rare Single Gene Mutation, Genetic Association24
FCRL6Fc receptor like 61Rare Single Gene Mutation24
FEZF2FEZ family zinc finger 23Rare Single Gene Mutation, Genetic Association29
FGAFibrinogen alpha chain4Rare Single Gene Mutation, Genetic Association23
FGF13fibroblast growth factor 13XSyndromic3S2
FGF14fibroblast growth factor 1413Rare Single Gene Mutation31
FGFR1fibroblast growth factor receptor 18Genetic Association21
FHITfragile histidine triad gene3Rare Single Gene Mutation, Genetic Association212
FMR1fragile X mental retardation 1XRare Single Gene Mutation, Syndromic, Genetic Association, Functional1S48
FOXG1Forkhead box G114Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S5.749
FOXP1forkhead box P13Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S60.4562
FOXP2forkhead box P27Rare Single Gene Mutation, Genetic Association, Functional150
FRG1FSHD region gene 14Rare Single Gene Mutation21
FRKfyn-related kinase6Rare Single Gene Mutation, Genetic Association23
FRMPD4FERM and PDZ domain containing 4XRare Single Gene Mutation, SyndromicS7
FXNfrataxin9Rare Single Gene Mutation31
GABBR2gamma-aminobutyric acid type B receptor subunit 29Rare Single Gene Mutation, Syndromic, Functional2S13
GABRA3Gamma-aminobutyric acid (GABA) A receptor, alpha 3XRare Single Gene MutationS3
GABRA4gamma-aminobutyric acid (GABA) A receptor, alpha 44Rare Single Gene Mutation, Genetic Association, Functional28
GABRB2gamma-aminobutyric acid type A receptor subunit beta25Rare Single Gene Mutation10.33
GABRB3gamma-aminobutyric acid (GABA) A receptor, beta 315Rare Single Gene Mutation, Genetic Association, Functional144
GABRG3gamma-aminobutyric acid type A receptor gamma3 subunit15Genetic Association210
GALNT10polypeptide N-acetylgalactosaminyltransferase 105Rare Single Gene Mutation, Genetic Association26
GALNT13polypeptide N-acetylgalactosaminyltransferase 132Rare Single Gene Mutation24
GALNT14polypeptide N-acetylgalactosaminyltransferase 142Rare Single Gene Mutation, Genetic Association26
GALNT2polypeptide N-acetylgalactosaminyltransferase 21Rare Single Gene Mutation, SyndromicS3
GALNT8polypeptide N-acetylgalactosaminyltransferase 812Rare Single Gene Mutation22
GATMGlycine amidinotransferase (L-arginine:glycine amidinotransferase)15SyndromicS2
GBE11,4-alpha-glucan branching enzyme 13Rare Single Gene Mutation23
GDAguanine deaminase9Rare Single Gene Mutation, Genetic Association22
GFAPglial fibrillary acidic protein17Rare Single Gene Mutation10.31
GGNBP2gametogenetin binding protein 217Rare Single Gene Mutation22
GIGYF1GRB10 interacting GYF protein 17Rare Single Gene Mutation117.2514
GIGYF2GRB10 interacting GYF protein 22Rare Single Gene Mutation18
GLIS1GLIS family zinc finger 11Rare Single Gene Mutation, Genetic Association23
GLO1glyoxalase I6Rare Single Gene Mutation, Genetic Association210
GLRA2glycine receptor, alpha 2XRare Single Gene Mutation, Functional217
GNAI1G protein subunit alpha i17Rare Single Gene Mutation, Syndromic12.14
GNASGNAS complex locus20Rare Single Gene Mutation28
GNB1Lguanine nucleotide binding protein (G protein), beta polypeptide 1-like22Rare Single Gene Mutation, Genetic Association22
GNB2G protein subunit beta 27Rare Single Gene Mutation, SyndromicS4
GPC4glypican 4XRare Single Gene Mutation22
GPC5glypican 513Rare Single Gene Mutation37
GPC6glypican 613Rare Single Gene Mutation, Genetic Association28
GPD2glycerol-3-phosphate dehydrogenase 22Rare Single Gene Mutation, Genetic Association24
GPHNGephyrin14Rare Single Gene Mutation28
GPR37G protein-coupled receptor 377Rare Single Gene Mutation22
GPR85G protein-coupled receptor 857Rare Single Gene Mutation, Genetic Association25
GRB10growth factor receptor bound protein 107Rare Single Gene Mutation, Functional311
GRIA1glutamate ionotropic receptor AMPA type subunit 15Rare Single Gene Mutation, Syndromic210
GRIA2glutamate ionotropic receptor AMPA type subunit 24Rare Single Gene Mutation1129
GAS2Growth arrest-specific 211Genetic Association21
GRIA3glutamate ionotropic receptor AMPA type subunit 3XRare Single Gene Mutation, Syndromic, FunctionalS13
GRID1Glutamate receptor, ionotropic, delta 110Rare Single Gene Mutation, Genetic Association26
GRID2glutamate receptor, ionotropic, delta 24Rare Single Gene Mutation, Syndromic, Genetic Association211
GRID2IPGrid2 interacting protein7Rare Single Gene Mutation24
GRIK2glutamate ionotropic receptor kainate type subunit 26Rare Single Gene Mutation, Genetic Association221
GRIK3glutamate ionotropic receptor kainate type subunit 31Rare Single Gene Mutation, Genetic Association26
GRIK4Glutamate receptor, ionotropic, kainate 411Rare Single Gene Mutation, Functional25
GRIK5Glutamate receptor, ionotropic, kainate 519Rare Single Gene Mutation29
GRIN1Glutamate receptor, ionotropic, N-methyl D-aspartate 19Rare Single Gene Mutation, Syndromic, Functional123
GPX1glutathione peroxidase 13Genetic Association25
GRIN2Aglutamate receptor, ionotropic, N-methyl D-aspartate 2A16Rare Single Gene Mutation, Syndromic, Genetic Association, Functional13.654
GRIN2Bglutamate receptor, inotropic, N-methyl D-apartate 2B12Rare Single Gene Mutation, Syndromic, Genetic Association, Functional129.6571
GRIP1glutamate receptor interacting protein 112Rare Single Gene Mutation213
GRK4G protein-coupled receptor kinase 44Rare Single Gene Mutation, Functional25
GRM5glutamate metabotropic receptor 511Rare Single Gene Mutation, Genetic Association, Functional28
GRM7Glutamate receptor, metabotropic 73Rare Single Gene Mutation, Genetic Association, Functional216
GSTM1glutathione S-transferase M11Genetic Association23
GTF2Igeneral transcription factor IIi7Rare Single Gene Mutation, Genetic Association26
GUCY1A2guanylate cyclase 1 soluble subunit alpha 211Rare Single Gene Mutation, Genetic Association22
H1-4H1.4 linker histone, cluster member6Rare Single Gene Mutation, SyndromicS9
H2BC11H2B clustered histone 116Rare Single Gene Mutation23
H4C11H4 clustered histone 116Rare Single Gene Mutation, SyndromicS4
H4C3H4 clustered histone 36SyndromicS2
H4C5H4 clustered histone 56Rare Single Gene Mutation, SyndromicS5
HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 16Rare Single Gene Mutation, Syndromic37
HCFC1host cell factor C1XRare Single Gene Mutation, SyndromicS11
HCN1Hyperpolarization activated cyclic nucleotide-gated potassium channel 15Rare Single Gene Mutation, Genetic AssociationS11
HDAC4histone deacetylase 42Rare Single Gene Mutation, Syndromic, Genetic Association2S16
HDAC8histone deacetylase 8XRare Single Gene Mutation, SyndromicS9
HDLBPhigh density lipoprotein binding protein2Rare Single Gene Mutation11.255
HECTD4HECT domain E3 ubiquitin protein ligase 412Rare Single Gene Mutation18
HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 22Rare Single Gene Mutation, Syndromic215
HEPACAMhepatic and glial cell adhesion molecule11Rare Single Gene Mutation, Syndromic, FunctionalS11
HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 115Rare Single Gene Mutation, Syndromic, Functional2S11
HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 215Rare Single Gene MutationS8
HIVEP2HIVEP zinc finger 26Rare Single Gene Mutation, Syndromic, Functional1S11
HIVEP3human immunodeficiency virus type I enhancer binding protein 31Rare Single Gene Mutation, Genetic Association27
HLA-Amajor histocompatibility complex, class I, A6Genetic Association210
HLA-BMajor histocompatibility complex, class I, B6Genetic Association25
HLA-DPB1major histocompatibility complex, class II, DP beta 16Rare Single Gene Mutation, Genetic Association22
HLA-DRB1major histocompatibility complex, class II, DR beta 16Genetic Association211
HNRNPDheterogeneous nuclear ribonucleoprotein D4Rare Single Gene Mutation2S4
HNRNPFheterogeneous nuclear ribonucleoprotein F10Rare Single Gene Mutation23
HNRNPH2heterogeneous nuclear ribonucleoprotein H2XRare Single Gene Mutation, Syndromic117
HNRNPKheterogeneous nuclear ribonucleoprotein K9Rare Single Gene Mutation, Syndromic2S11
HNRNPRheterogeneous nuclear ribonucleoprotein R1Rare Single Gene Mutation2S5
HNRNPUheterogeneous nuclear ribonucleoprotein U1Rare Single Gene Mutation, Syndromic, Functional1S32
HNRNPUL2heterogeneous nuclear ribonucleoprotein U like 211Rare Single Gene Mutation2S4
HOMER1Homer homolog 1 (Drosophila)5Rare Single Gene Mutation, Functional26
HOXA1homeobox A17Rare Single Gene Mutation, Syndromic, Genetic AssociationS15
HRASv-Ha-ras Harvey rat sarcoma viral oncogene homolog11Rare Single Gene Mutation, Syndromic, Genetic Association112
HSD11B1hydroxysteroid (11-beta) dehydrogenase 11Rare Single Gene Mutation, Syndromic29
HTR1B5-hydroxytryptamine (serotonin) receptor 1B6Rare Single Gene Mutation, Genetic Association26
HTR3A5-hydroxytryptamine (serotonin) receptor 3A11Rare Single Gene Mutation, Genetic Association, Functional27
HTR3C5-hydroxytryptamine (serotonin) receptor 3, family member C3Rare Single Gene Mutation, Genetic Association26
HUWE1HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligaseXRare Single Gene Mutation, SyndromicS24
HYDINHYDIN, axonemal central pair apparatus protein16Rare Single Gene Mutation, Genetic Association23
ICA1islet cell autoantigen 17Rare Single Gene Mutation29
IGF1insulin like growth factor 112Rare Single Gene Mutation, Functional38
IKZF1IKAROS family zinc finger 17Rare Single Gene Mutation36
IL1R2interleukin 1 receptor, type II2Rare Single Gene Mutation26
IL1RAPL1interleukin 1 receptor accessory protein-like 1XRare Single Gene Mutation225
IL1RAPL2interleukin 1 receptor accessory protein-like 2XRare Single Gene Mutation, Genetic Association22
ILF2Interleukin enhancer binding factor 21Rare Single Gene Mutation25
IMMP2LIMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)7Rare Single Gene Mutation, Genetic Association, Functional215
INPP1inositol polyphosphate-1-phosphatase2Rare Single Gene Mutation, Genetic Association24
INTS1integrator complex subunit 17Rare Single Gene Mutation, SyndromicS5
INTS6Integrator complex subunit 613Rare Single Gene Mutation24
IQGAP3IQ motif containing GTPase activating protein 31Rare Single Gene Mutation24
IQSEC2IQ motif and Sec7 domain 2XRare Single Gene Mutation, Syndromic, Functional1S45
IRF2BPLInterferon regulatory factor 2 binding protein-like14Rare Single Gene Mutation, Syndromic1S910
ITGA8integrin subunit alpha 810Rare Single Gene Mutation35
ITGB3integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)17Rare Single Gene Mutation, Genetic Association, Functional219
ITPR1inositol 1,4,5-trisphosphate receptor type 13Rare Single Gene Mutation213
ITSN1intersectin 121Rare Single Gene Mutation, Syndromic27
JARID2jumonji and AT-rich interaction domain containing 26Rare Single Gene Mutation, Syndromic, Genetic Association216
HLA-Gmajor histocompatibility complex, class I, G6Genetic Association24
HMGN1high mobility group nucleosome binding domain 121Genetic Association21
HS3ST5heparan sulfate (glucosamine) 3-O-sulfotransferase 56Genetic Association27
JMJD1Cjumonji domain containing 1C10Rare Single Gene Mutation29
KANK1KN motif and ankyrin repeat domains 19Rare Single Gene Mutation211
KANSL1KAT8 regulatory NSL complex subunit 117Rare Single Gene Mutation, Syndromic, Functional1S1.110
KAT2BK(lysine) acetyltransferase 2B3Rare Single Gene Mutation, Functional28
KAT6AK(lysine) acetyltransferase 6A8Rare Single Gene Mutation, Syndromic, Functional2S24
KAT6Blysine acetyltransferase 6B10Rare Single Gene Mutation, Syndromic37
KATNAL1katanin catalytic subunit A1 like 113Rare Single Gene Mutation, Functional22
KATNAL2Katanin p60 subunit A-like 218Rare Single Gene Mutation, Functional14.114
KCNA2potassium voltage-gated channel subfamily A member 21Rare Single Gene MutationS8
KCNB1potassium voltage-gated channel subfamily B member 120Rare Single Gene Mutation, Syndromic1S19
KCNC1potassium voltage-gated channel subfamily C member 111Rare Single Gene Mutation, Functional26
KCNC2potassium voltage-gated channel subfamily C member 212Rare Single Gene Mutation310
KCND2potassium voltage-gated channel subfamily D member 27Rare Single Gene Mutation, Genetic Association27
KCND3potassium voltage-gated channel subfamily D member 31Rare Single Gene Mutation, Syndromic, Genetic Association212
KCNJ10potassium voltage-gated channel subfamily J member 101Rare Single Gene Mutation, Syndromic, Genetic Association211
KCNJ15potassium voltage-gated channel subfamily J member 1521Rare Single Gene Mutation23
KCNK7potassium two pore domain channel subfamily K member 711Rare Single Gene Mutation22
KCNMA1potassium large conductance calcium-activated channel, subfamily M, alpha member 110Rare Single Gene Mutation, Syndromic228
KCNQ2potassium voltage-gated channel subfamily Q member 220Rare Single Gene Mutation, Syndromic, Genetic Association, Functional242
KCNQ3potassium voltage-gated channel subfamily Q member 38Rare Single Gene Mutation, Genetic Association111.118
KCNS3potassium voltage-gated channel modifier subfamily S member 32Rare Single Gene Mutation25
KCTD13Potassium channel tetramerisation domain containing 1316Rare Single Gene Mutation, Functional28
KDM1Blysine demethylase 1B6Rare Single Gene Mutation22
KDM2Alysine demethylase 2A11Rare Single Gene Mutation37
KDM3Blysine demethylase 3B5Rare Single Gene Mutation, Syndromic1S1.52
KDM4Blysine demethylase 4B19Rare Single Gene Mutation, Syndromic, Functional25
KDM4Clysine demethylase 4C9Rare Single Gene Mutation23
KDM5Alysine demethylase 5A12Rare Single Gene Mutation23
KDM5BLysine (K)-specific demethylase 5B1Rare Single Gene Mutation, Syndromic, Functional12.818
KDM5Clysine demethylase 5CXRare Single Gene Mutation, Syndromic, Functional131
KDM6Alysine demethylase 6AXRare Single Gene Mutation, Syndromic210
KDM6BLysine (K)-specific demethylase 6B17Rare Single Gene Mutation, Syndromic, Functional113.7517
KHDRBS2KH domain containing, RNA binding, signal transduction associated 26Rare Single Gene Mutation24
KIAA0232KIAA02324Rare Single Gene Mutation13
KIAA1586KIAA15866Rare Single Gene Mutation24
KIF13BKinesin family member 13B8Rare Single Gene Mutation23
KIF14kinesin family member 141Rare Single Gene Mutation, Syndromic25
KIF1Akinesin family member 1A2Rare Single Gene Mutation, Syndromic2S10
KIF5CKinesin family member 5C2Rare Single Gene Mutation, Syndromic, Functional2S11
KIRREL3Kin of IRRE like 3 (Drosophila)11Rare Single Gene Mutation217
KLF16Kruppel like factor 1619Rare Single Gene Mutation21
KLF7Kruppel like factor 72Rare Single Gene Mutation, Functional311
KMT2ALysine (K)-specific methyltransferase 2A11Rare Single Gene Mutation, Syndromic, Functional1S39
KMT2CLysine (K)-specific methyltransferase 2C7Rare Single Gene Mutation, Syndromic, Functional1S27
KMT2ELysine (K)-specific methyltransferase 2E7Rare Single Gene Mutation, Syndromic, Genetic Association1S16
KMT5Blysine methyltransferase 5B11Rare Single Gene Mutation, Syndromic, Functional120
KNG1kininogen 13Rare Single Gene Mutation31
KPTNkaptin, actin binding protein19Rare Single Gene Mutation, SyndromicS6
KRR1KRR1, small subunit (SSU) processome component, homolog (yeast)12Rare Single Gene Mutation, Genetic Association22
KRT26keratin 2617Rare Single Gene Mutation22
LAMA1Laminin, alpha 118Rare Single Gene Mutation, Genetic Association29
LAMB1laminin, beta 17Rare Single Gene Mutation, Genetic Association27
LAS1LLAS1 like ribosome biogenesis factorXRare Single Gene Mutation, Syndromic35
LDB1LIM domain binding 110Rare Single Gene Mutation142
LDLRlow density lipoprotein receptor19Rare Single Gene Mutation31
LEMD3LEM domain containing 312Rare Single Gene Mutation23
LEO1LEO1 homolog, Paf1/RNA polymerase II complex component15Rare Single Gene Mutation24
KIZkizuna centrosomal protein20Genetic Association, Functional32
LEPLeptin7Rare Single Gene Mutation21
LILRB2leukocyte immunoglobulin like receptor B219Rare Single Gene Mutation22
LIN7Blin-7 homolog B, crumbs cell polarity complex component19Rare Single Gene Mutation22
LMTK3lemur tyrosine kinase 319Rare Single Gene Mutation, Functional35
LMX1BLIM homeobox transcription factor 1 beta9Genetic Association21
LNPKlunapark, ER junction formation factor2SyndromicS1
LRBALPS-responsive vesicle trafficking, beach and anchor containing4Rare Single Gene Mutation27
LRFN2leucine rich repeat and fibronectin type III domain containing 26Rare Single Gene Mutation, Genetic Association, Functional24
LRFN5leucine rich repeat and fibronectin type III domain containing 514Rare Single Gene Mutation, Genetic Association, Functional27
LRP1LDL receptor related protein 112Rare Single Gene Mutation26
LRP2LDL receptor related protein 22Rare Single Gene Mutation, Syndromic, Genetic Association217
LRRC1leucine rich repeat containing 16Rare Single Gene Mutation, Genetic Association26
LRRC4leucine rich repeat containing 47Rare Single Gene Mutation, Functional24
LRRC4Cleucine rich repeat containing 4C11Rare Single Gene Mutation11.252
LZTR1Leucine-zipper-like transcription regulator 122Rare Single Gene Mutation, Syndromic115
LZTS2leucine zipper, putative tumor suppressor 210Genetic Association24
MACROD2MACRO domain containing 220Rare Single Gene Mutation, Genetic Association221
MAGEL2MAGE-like 215Rare Single Gene Mutation, Syndromic, Functional1S21
MAOAmonoamine oxidase AXRare Single Gene Mutation, Syndromic, Genetic Association, Functional218
MAOBmonoamine oxidase BXRare Single Gene Mutation, Syndromic, Genetic Association, Functional26
MAP1Amicrotubule associated protein 1A15Rare Single Gene Mutation14
MAP4K1mitogen-activated protein kinase kinase kinase kinase 119Rare Single Gene Mutation34
MAPK3mitogen-activated protein kinase 316Rare Single Gene Mutation, Functional26
MAPK8IP1mitogen-activated protein kinase 8 interacting protein 111Rare Single Gene Mutation34
MAPTmicrotubule associated protein tau17Genetic Association, Functional33
MAPT-AS1MAPT antisense RNA 117Genetic Association21
MARK1microtubule affinity regulating kinase 11Rare Single Gene Mutation, Genetic Association210
MARK2microtubule affinity regulating kinase 211Rare Single Gene Mutation24
MAST3microtubule associated serine/threonine kinase 319Rare Single Gene Mutation, Functional36
MBD1methyl-CpG binding domain protein 118Rare Single Gene Mutation28
MBD3methyl-CpG binding domain protein 319Rare Single Gene Mutation24
MBD4methyl-CpG binding domain protein 43Rare Single Gene Mutation27
MBD5Methyl-CpG binding domain protein 52Rare Single Gene Mutation, Syndromic, Functional1S46.640
MBD6Methyl-CpG binding domain protein 612Rare Single Gene Mutation22
MBOAT7membrane bound O-acyltransferase domain containing 719Rare Single Gene Mutation, Syndromic1S5.2514
MCM4minichromosome maintenance complex component 48Rare Single Gene Mutation22
MCM6minichromosome maintenance complex component 62Rare Single Gene Mutation22
MCPH1microcephalin 18Rare Single Gene Mutation217
MDGA2MAM domain containing glycosylphosphatidylinositol anchor 214Rare Single Gene Mutation, Genetic Association29
MECP2Methyl CpG binding protein 2XRare Single Gene Mutation, Syndromic, Functional1S107
MED12Lmediator complex subunit 12L3Rare Single Gene Mutation, Syndromic2S4
MED13mediator complex subunit 1317Rare Single Gene Mutation, Syndromic1S9.37
MED13LMediator complex subunit 13-like12Rare Single Gene Mutation, Syndromic1S3543
MED23mediator complex subunit 236Rare Single Gene Mutation22
MEF2Cmyocyte enhancer factor 2C5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S9.8544
MEGF10multiple EGF like domains 105Rare Single Gene Mutation, Genetic Association27
MEGF11multiple EGF like domains 1115Rare Single Gene Mutation25
MEIS2Meis homeobox 215Rare Single Gene Mutation, Syndromic1S7.511
MEMO1mediator of cell motility 12Rare Single Gene Mutation, Functional22
METmet proto-oncogene (hepatocyte growth factor receptor)7Rare Single Gene Mutation, Genetic Association, Functional239
METTL26methyltransferase like 2616Rare Single Gene Mutation22
MFRPMembrane frizzled-related protein11Rare Single Gene Mutation26
MIB1Mindbomb E3 ubiquitin protein ligase 118Rare Single Gene Mutation28
MINK1misshapen like kinase 117Rare Single Gene Mutation37
MIR137microRNA 1371Rare Single Gene Mutation, Syndromic, Genetic Association, Functional210
MKXmohawk homeobox10Rare Single Gene Mutation10.33
MLANAmelan-A9Rare Single Gene Mutation23
MRTFBmyocardin related transcription factor B16Rare Single Gene Mutation, Genetic Association210
MSANTD2Myb/SANT DNA binding domain containing 211Rare Single Gene Mutation21
MSL3MSL complex subunit 3XRare Single Gene Mutation, Syndromic16
MSR1macrophage scavenger receptor 18Rare Single Gene Mutation24
MSX2msh homeobox 25Rare Single Gene Mutation, Syndromic32
MTF1metal-regulatory transcription factor 11Rare Single Gene Mutation, Syndromic, Genetic Association25
MTHFRmethylenetetrahydrofolate reductase (NAD(P)H)1Rare Single Gene Mutation, Syndromic, Genetic Association219
MTORmechanistic target of rapamycin kinase1Rare Single Gene Mutation, Syndromic, Functional1S28
MUC12mucin 12, cell surface associated7Rare Single Gene Mutation23
MUC4mucin 4, cell surface associated3Rare Single Gene Mutation28
MYH10myosin heavy chain 1017Rare Single Gene Mutation25
MYH4Myosin, heavy chain 4, skeletal muscle17Rare Single Gene Mutation25
MYH9myosin heavy chain 922Rare Single Gene Mutation26
MYLKmyosin light chain kinase3Rare Single Gene Mutation32
MYO16myosin XVI13Rare Single Gene Mutation, Genetic Association28
MYO1Emyosin IE15Rare Single Gene Mutation25
MYO5Amyosin VA15Rare Single Gene Mutation, Genetic Association25
MYO5Cmyosin VC15Rare Single Gene Mutation23
MYO9BMyosin IXB19Rare Single Gene Mutation24
MYOCDmyocardin17Rare Single Gene Mutation32
MYT1LMyelin transcription factor 1-like2Rare Single Gene Mutation, Syndromic, Genetic Association, Functional120.3531
NAA15N(alpha)-acetyltransferase 15, NatA auxiliary subunit4Rare Single Gene Mutation, Syndromic1S31.716
NAALADL2N-acetylated alpha-linked acidic dipeptidase-like 23Rare Single Gene Mutation, Genetic Association22
NACC1nucleus accumbens associated 119Rare Single Gene Mutation, Syndromic1S8
NAV2neuron navigator 211Rare Single Gene Mutation, Syndromic211
NAV3neuron navigator 312Rare Single Gene Mutation22
NBEAneurobeachin13Rare Single Gene Mutation, Syndromic, Functional1S21
NCAPH2non-SMC condensin II complex subunit H222Rare Single Gene Mutation31
NCKAP1NCK-associated protein 12Rare Single Gene Mutation, Syndromic113
NCKAP5NCK-associated protein 52Rare Single Gene Mutation22
NCOA1nuclear receptor coactivator 12Rare Single Gene Mutation, Syndromic133
NCOR1nuclear receptor corepressor 117Rare Single Gene Mutation, Functional28
NEGR1neuronal growth regulator 11Rare Single Gene Mutation, Genetic Association, Functional26
MNTMAX network transcriptional repressor17Genetic Association21
MSRAmethionine sulfoxide reductase A8Genetic Association, Functional311
NDUFA5NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa7Genetic Association23
NEO1Neogenin 11521
NEXMIFneurite extension and migration factorXRare Single Gene Mutation, Syndromic, Functional131
NF1neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)17Rare Single Gene Mutation, Syndromic, Genetic Association1S9.330
NFE2L3nuclear factor, erythroid 2 like 37Rare Single Gene Mutation23
NFIAnuclear factor I/A1Rare Single Gene Mutation214
NFIBnuclear factor I B9Rare Single Gene Mutation, Syndromic2S5
MSNP1ASMoesinpseudogene 1, antisense5Genetic Association, Functional213
NFIXnuclear factor I/X (CCAAT-binding transcription factor)19Rare Single Gene Mutation, SyndromicS13
NINLNinein-like20Rare Single Gene Mutation27
NIPA1non imprinted in Prader-Willi/Angelman syndrome 115Rare Single Gene Mutation25
NIPA2non imprinted in Prader-Willi/Angelman syndrome 215Rare Single Gene Mutation22
NIPBLNipped-B homolog (Drosophila)5Rare Single Gene Mutation, Syndromic1S17
NKX2-2NK2 homeobox 220Genetic Association, Functional32
NLGN1neuroligin 13Rare Single Gene Mutation, Genetic Association219
NLGN2Neuroligin 217Rare Single Gene Mutation, Functional138
NLGN3neuroligin 3XRare Single Gene Mutation, Genetic Association, Functional16.539
NLGN4Xneuroligin 4, X-linkedXRare Single Gene Mutation, Syndromic, Genetic Association11237
NLGN4Yneuroligin 4, Y-linkedYRare Single Gene Mutation, Genetic Association, Functional26
NOVA2NOVA alternative splicing regulator 219SyndromicS2
NPAS2neuronal PAS domain protein 22Genetic Association24
NPFFR2neuropeptide FF receptor 24Rare Single Gene Mutation36
NR1D1nuclear receptor subfamily 1 group D member 117Rare Single Gene Mutation23
NR2F1nuclear receptor subfamily 2 group F member 15Rare Single Gene Mutation, Syndromic, Functional2S21
NR3C2Nuclear receptor subfamily 3, group C, member 24Rare Single Gene Mutation, Syndromic1S10
NR4A2nuclear receptor subfamily 4 group A member 22Rare Single Gene Mutation, Syndromic17.759
NRCAMneuronal cell adhesion molecule7Rare Single Gene Mutation, Genetic Association25
NRP2neuropilin 22Rare Single Gene Mutation, Genetic Association29
NRXN1neurexin 12Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1143.75100
NRXN2neurexin 211Rare Single Gene Mutation, Syndromic, Genetic Association1713
NRXN3neurexin 314Rare Single Gene Mutation, Genetic Association, Functional111.122
NSD1nuclear receptor binding SET domain protein 15Rare Single Gene Mutation, Syndromic1S25
NSD2nuclear receptor binding SET domain protein 24Rare Single Gene Mutation, Syndromic2S11
NSMCE3NSE3 homolog, SMC5-SMC6 complex component15Functional23
NTNG1netrin G11Rare Single Gene Mutation, Syndromic, Genetic Association2S8
NTNG2netrin G29SyndromicS3
NTRK1neurotrophic tyrosine kinase, receptor, type 11Rare Single Gene Mutation, Syndromic28
NTRK2neurotrophic receptor tyrosine kinase 29Rare Single Gene Mutation, SyndromicS7
NTRK3neurotrophic tyrosine kinase, receptor, type 315Rare Single Gene Mutation, Syndromic, Genetic Association214
NUAK1NUAK family, SNF1-like kinase, 112Rare Single Gene Mutation, Functional26
NUDCD2NudC domain containing 25Rare Single Gene Mutation23
NUP133nucleoporin 133kDa1Rare Single Gene Mutation24
NUP155nucleoporin 1555Rare Single Gene Mutation10.12
NXF1nuclear RNA export factor 111Rare Single Gene Mutation32
NXPH1neurexophilin 17Rare Single Gene Mutation25
OCRLoculocerebrorenal syndrome of LoweXRare Single Gene Mutation, SyndromicS9
ODF3L2outer dense fiber of sperm tails 3-like 219Rare Single Gene Mutation21
OFD1OFD1, centriole and centriolar satellite proteinXRare Single Gene Mutation23
OPHN1oligophrenin 1XRare Single Gene Mutation, Syndromic216
OR1C1olfactory receptor, family 1, subfamily C, member 11Rare Single Gene Mutation24
OR2T10olfactory receptor family 2 subfamily T member 101Rare Single Gene Mutation23
OR52M1Olfactory receptor, family 52, subfamily M, member 111Rare Single Gene Mutation23
OTUD7AOTU deubiquitinase 7A15Rare Single Gene Mutation, Functional25
OXToxytocin/neurophysin I prepropeptide20Rare Single Gene Mutation, Genetic Association25
OXTRoxytocin receptor3Rare Single Gene Mutation, Genetic Association, Functional249
P2RX5Purinergic receptor P2X, ligand gated ion channel, 517Rare Single Gene Mutation24
P4HA2Prolyl 4-hydroxylase, alpha polypeptide II5Rare Single Gene Mutation24
PABPC1poly(A) binding protein cytoplasmic 18Rare Single Gene Mutation, Syndromic36
PACS1phosphofurin acidic cluster sorting protein 111Rare Single Gene Mutation, Syndromic1S1.3512
PACS2phosphofurin acidic cluster sorting protein 214Rare Single Gene Mutation, SyndromicS6
PAFAH1B2platelet activating factor acetylhydrolase 1b catalytic subunit 211Rare Single Gene Mutation23
PAHPhenylalanine hydroxylase12Rare Single Gene Mutation, Syndromic19
PAK1p21 (RAC1) activated kinase 111Rare Single Gene Mutation, SyndromicS5
PAK2p21 (RAC1) activated kinase 23Rare Single Gene Mutation, Syndromic25
PAPOLGpoly(A) polymerase gamma2Rare Single Gene Mutation24
PARD3BPar-3 partitioning defective 3 homolog B (C. elegans)2Rare Single Gene Mutation, Genetic Association28
PATJPATJ, crumbs cell polarity complex component1Rare Single Gene Mutation, Genetic Association24
PAX5Paired box 59Rare Single Gene Mutation15.7510
PAX6Paired box 611Rare Single Gene Mutation, Syndromic, FunctionalS8
PBX1PBX homeobox 11Rare Single Gene Mutation25
PCpyruvate carboxylase11Rare Single Gene Mutation38
PCCApropionyl-CoA carboxylase alpha subunit13Rare Single Gene Mutation, SyndromicS11
PCCBpropionyl-CoA carboxylase beta subunit3Rare Single Gene Mutation, Syndromic1S9
PCDH10protocadherin 104Rare Single Gene Mutation, Functional210
PCDH11Xprotocadherin 11 X-linkedXRare Single Gene Mutation22
PCDH15protocadherin related 1510Rare Single Gene Mutation, Syndromic, Genetic Association29
PCDH19protocadherin 19XRare Single Gene Mutation, Syndromic, Functional1S52
PCDH9protocadherin 913Rare Single Gene Mutation, Genetic Association, Functional29
PCDHA1Protocadherin alpha 15Rare Single Gene Mutation, Syndromic, Genetic Association24
PCDHA10Protocadherin alpha 105Rare Single Gene Mutation, Genetic Association24
PCDHA11Protocadherin alpha 115Rare Single Gene Mutation, Genetic Association26
PCDHA12Protocadherin alpha 125Rare Single Gene Mutation, Genetic Association23
PCDHA13Protocadherin alpha 135Rare Single Gene Mutation, Genetic Association25
PCDHA2Protocadherin alpha 25Rare Single Gene Mutation, Genetic Association25
PCDHA3Protocadherin alpha 35Rare Single Gene Mutation, Genetic Association24
PCDHA4Protocadherin alpha 45Rare Single Gene Mutation, Genetic Association24
PCDHA5Protocadherin alpha 55Rare Single Gene Mutation, Genetic Association25
PCDHA6Protocadherin alpha 65Rare Single Gene Mutation, Genetic Association23
PCDHA7Protocadherin alpha 75Rare Single Gene Mutation, Genetic Association26
PCDHA8Protocadherin alpha 85Rare Single Gene Mutation, Genetic Association24
PCDHA9Protocadherin alpha 95Rare Single Gene Mutation, Genetic Association24
PCDHAC1Protocadherin alpha subfamily C, 15Rare Single Gene Mutation, Genetic Association23
PCDHAC2Protocadherin alpha subfamily C, 25Rare Single Gene Mutation, Genetic Association24
PCM1pericentriolar material 18Rare Single Gene Mutation24
PDCD1programmed cell death 12Rare Single Gene Mutation24
PDE1Cphosphodiesterase 1C7Rare Single Gene Mutation, Genetic Association23
PDE3Bphosphodiesterase 3B11Rare Single Gene Mutation36
PDK2pyruvate dehydrogenase kinase 217Rare Single Gene Mutation25
PDZD8PDZ domain containing 810Syndromic, FunctionalS2
PEBP4phosphatidylethanolamine binding protein 48Rare Single Gene Mutation31
PER1period homolog 1 (Drosophila)17Rare Single Gene Mutation, Genetic Association27
PER2period circadian clock 22Rare Single Gene Mutation26.755
PEX7peroxisomal biogenesis factor 76Rare Single Gene Mutation, Genetic Association24
PHF12PHD finger protein 1217Rare Single Gene Mutation19.53
PHF14PHD finger protein 147Rare Single Gene Mutation, Syndromic35
PHF2PHD finger protein 29Rare Single Gene Mutation14.257
PHF21APHD finger protein 21A11Rare Single Gene Mutation, Syndromic1S5.3512
PHF3PHD finger protein 36Rare Single Gene Mutation19.754
PHF7PHD finger protein 73Rare Single Gene Mutation23
PHF8PHD finger protein 8XRare Single Gene Mutation, SyndromicS13
PHIPpleckstrin homology domain interacting protein6Rare Single Gene Mutation, Syndromic1S20
OR2M4Olfactory receptor, family 2, subfamily M, member 41Genetic Association21
OTX1orthodenticle homeobox 12Genetic Association23
PHB1prohibitin 117Genetic Association21
PHRF1PHD and ring finger domains 111Rare Single Gene Mutation24
PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha3Rare Single Gene Mutation, Syndromic37
PIK3CGphosphoinositide-3-kinase, catalytic, gamma polypeptide7Genetic Association24
PIK3R2phosphoinositide-3-kinase regulatory subunit 219Rare Single Gene Mutation, SyndromicS7
PITX1paired-like homeodomain 15Rare Single Gene Mutation, Genetic Association26
PJA1praja ring finger ubiquitin ligase 1XSyndromic31
PLAURPlasminogen activator, urokinase receptor19Rare Single Gene Mutation, Genetic Association22
PLCB1phospholipase C, beta 1 (phosphoinositide-specific)20Rare Single Gene Mutation27
PLCD4phospholipase C delta 42Rare Single Gene Mutation24
PLNphospholamban6Rare Single Gene Mutation24
PLXNA3plexin A3XRare Single Gene Mutation, Syndromic27
PLXNA4Plexin A47Rare Single Gene Mutation, Functional25
PLXNB1plexin B13Rare Single Gene Mutation23
PNPLA7patatin like phospholipase domain containing 79Rare Single Gene Mutation24
POGZPogo transposable element with ZNF domain1Rare Single Gene Mutation, Syndromic, Functional1S35.453
POLA2DNA polymerase alpha 2, accessory subunit11Rare Single Gene Mutation23
POLR2ARNA polymerase II subunit A17Rare Single Gene Mutation, Syndromic3S7
POLR3ARNA polymerase III subunit A10Rare Single Gene Mutation, Syndromic3S8
POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)1Rare Single Gene Mutation, Syndromic1S17
POMT1protein O-mannosyltransferase 19Rare Single Gene Mutation23
POT1Protection of telomeres 1 homolog (S. pombe)7Rare Single Gene Mutation21
POU3F3POU class 3 homeobox 32SyndromicS1
PPFIA1PTPRF interacting protein alpha 111Rare Single Gene Mutation23
PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D17Rare Single Gene Mutation, Syndromic2S9
PPP1R9Bprotein phosphatase 1 regulatory subunit 9B17Rare Single Gene Mutation11.53
PPP2CAprotein phosphatase 2 catalytic subunit alpha5Rare Single Gene Mutation, SyndromicS2
PPP2R1Bprotein phosphatase 2 regulatory subunit A, beta11Rare Single Gene Mutation27
PPP2R5DProtein phosphatase 2, regulatory subunit B', delta6Rare Single Gene Mutation, Syndromic1S8.525
PPP3CAprotein phosphatase 3 catalytic subunit alpha4Rare Single Gene Mutation, Syndromic3S9
PPP5Cprotein phosphatase 5 catalytic subunit19Rare Single Gene Mutation113
PREX1Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 120Rare Single Gene Mutation, Genetic Association23
PRICKLE1Prickle homolog 1 (Drosophila)12Rare Single Gene Mutation, Syndromic, Functional25
PRICKLE2prickle planar cell polarity protein 23Rare Single Gene Mutation, Functional25
PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta7Rare Single Gene Mutation, Syndromic26
PRKCAprotein kinase C alpha17Rare Single Gene Mutation24
PRKCBprotein kinase C beta16Rare Single Gene Mutation, Genetic Association28
PRKD1Protein kinase D114Rare Single Gene Mutation, SyndromicS4
PRKD2protein kinase D219Rare Single Gene Mutation23
PRKDCprotein kinase, DNA-activated, catalytic polypeptide8Rare Single Gene Mutation, Syndromic, Functional27
PRKNparkin RBR E3 ubiquitin protein ligase6Rare Single Gene Mutation, Genetic Association, Functional217
PRODHProline dehydrogenase (oxidase) 122Syndromic, Genetic Association2S6
PRPF39pre-mRNA processing factor 3914Rare Single Gene Mutation23
PRPF8pre-mRNA processing factor 817Rare Single Gene Mutation, Syndromic37
PRR12proline rich 1219Rare Single Gene Mutation, Syndromic1S6
PRUNE2prune homolog 29Rare Single Gene Mutation, Syndromic210
PSD3pleckstrin and Sec7 domain containing 38Rare Single Gene Mutation, Genetic Association26
PSMD12proteasome 26S subunit, non-ATPase 1217Syndromic1S63
PTBP2polypyrimidine tract binding protein 21Rare Single Gene Mutation, Genetic Association26
PTCHD1patched domain containing 1XRare Single Gene Mutation, Genetic Association114
PTCHD1-ASPTCHD1antisense RNA (head to head)XRare Single Gene Mutation217.63
PTDSS1phosphatidylserine synthase 18Rare Single Gene Mutation, Syndromic35
PTENphosphatase and tensin homolog (mutated in multiple advanced cancers 1)10Rare Single Gene Mutation, Syndromic, Functional1S63.1578
PON1paraoxonase 17Genetic Association25
PPP1R1BProtein phosphatase 1, regulatory (inhibitor) subunit 1B17Genetic Association21
PTGS2prostaglandin-endoperoxide synthase 21Rare Single Gene Mutation, Genetic Association, Functional27
PTK7Protein tyrosine kinase 7 (inactive)6Rare Single Gene Mutation16
PTPN11protein tyrosine phosphatase, non-receptor type 1112Rare Single Gene Mutation, Syndromic, Functional1S22
PTPN4protein tyrosine phosphatase non-receptor type 42SyndromicS3
PTPRBprotein tyrosine phosphatase, receptor type B12Rare Single Gene Mutation, Genetic Association24
PTPRCprotein tyrosine phosphatase, receptor type, C1Rare Single Gene Mutation, Genetic Association210
PTPRTprotein tyrosine phosphatase, receptor type, T20Rare Single Gene Mutation, Functional29
PXDNperoxidasin2Rare Single Gene Mutation, Syndromic27
PYHIN1Pyrin and HIN domain family, member 11Rare Single Gene Mutation24
QRICH1glutamine rich 13Rare Single Gene Mutation, Syndromic211
RAB11FIP5RAB11 family interacting protein 52Rare Single Gene Mutation, Functional26
RAB2ARAB2A, member RAS oncogene family8Rare Single Gene Mutation28
RAB39BRAB39B, member RAS oncogene familyXRare Single Gene Mutation, Syndromic, Functional216
RAB43RAB43, member RAS oncogene family3Rare Single Gene Mutation22
RAC1Rac family small GTPase 17Syndromic, FunctionalS6
RAD21RAD21cohesin complex component8SyndromicS4
RAD21L1RAD21 cohesin complex component like 120Rare Single Gene Mutation23
RAI1retinoic acid induced 117Rare Single Gene Mutation, Syndromic, Functional1S12.2529
RALARAS like proto-oncogene A7Rare Single Gene Mutation, SyndromicS4
RALGAPBRal GTPase activating protein non-catalytic beta subunit20Rare Single Gene Mutation15
RANBP17RAN binding protein 175Rare Single Gene Mutation27
RAPGEF4Rap guanine nucleotide exchange factor (GEF) 42Rare Single Gene Mutation217
RASSF5Ras association domain family member 51Rare Single Gene Mutation, Genetic Association24
RBBP5RB binding protein 5, histone lysine methyltransferase complex subunit1Rare Single Gene Mutation, Functional25
RBFOX1RNA binding protein, fox-1 homolog (C. elegans) 116Rare Single Gene Mutation, Genetic Association241
RBM27RNA binding motif protein 275Rare Single Gene Mutation23
REEP3receptor accessory protein 310Rare Single Gene Mutation23
RELNReelin7Rare Single Gene Mutation, Syndromic, Genetic Association, Functional17.260
REREArginine-glutamic acid dipeptide (RE) repeats1Rare Single Gene Mutation, Syndromic, Genetic Association1S6.58
RFX3regulatory factor X39Rare Single Gene Mutation, Syndromic115.959
RFX4regulatory factor X412Rare Single Gene Mutation, Syndromic3S2
RFX7regulatory factor X715Rare Single Gene Mutation, Syndromic3S3
RGS7regulator of G-protein signaling 71Rare Single Gene Mutation26
RHEBRas homolog, mTORC1 binding7SyndromicS1
RHOXF1Rhox homeobox family, member 1XGenetic Association23
RIMS1Regulating synaptic membrane exocytosis 16Rare Single Gene Mutation, Genetic Association111.358
RIMS2regulating synaptic membrane exocytosis 28Rare Single Gene Mutation, Syndromic, Genetic Association3S4
RIMS3regulating synaptic membrane exocytosis 31Rare Single Gene Mutation24
RIT2Ras-like without CAAX 218Genetic Association23
RLIMRing finger protein, LIM domain interactingXRare Single Gene Mutation, SyndromicS5
RNF135Ring finger protein 13517Rare Single Gene Mutation, Syndromic, Genetic Association2S4
RNF25ring finger protein 252Rare Single Gene Mutation22
RNF38ring finger protein 389Rare Single Gene Mutation22
ROBO2roundabout guidance receptor 23Rare Single Gene Mutation, Genetic Association, Functional28
RORARAR-related orphan receptor A15Rare Single Gene Mutation, Syndromic, Genetic Association, FunctionalS20
RORBRAR related orphan receptor B9Rare Single Gene Mutation, Syndromic, Functional1S8.259
RPL10ribosomal protein L10XRare Single Gene Mutation, Syndromic214
RPS6KA2ribosomal protein S6 kinase, 90kDa, polypeptide 26Rare Single Gene Mutation24
RPS6KA3Ribosomal protein S6 kinase, 90kDa, polypeptide 3XRare Single Gene Mutation, Syndromic2S15
RSRC1arginine and serine rich coiled-coil 13Syndromic, Genetic AssociationS7
SAE1SUMO1 activating enzyme subunit 119Rare Single Gene Mutation23
RP11-1407O15.217Rare Single Gene Mutation21
RPS10P2-AS1ribosomal protein S10 pseudogene 2 anti-sense 120Genetic Association, Functional24
SAMD11sterile alpha motif domain containing 111Rare Single Gene Mutation22
SASH1SAM and SH3 domain containing 16Rare Single Gene Mutation22
SATB1SATB homeobox 13Rare Single Gene Mutation, Syndromic12.54
SATB2SATB homeobox 22Rare Single Gene Mutation, Syndromic, Genetic Association2S24.9540
SBF1SET binding factor 122Rare Single Gene Mutation29
SCAF1SR-related CTD associated factor 119Rare Single Gene Mutation23
SCAF4SR-related CTD associated factor 421Rare Single Gene Mutation, Syndromic24
SCFD2sec1 family domain containing 24Rare Single Gene Mutation22
SCN1Asodium channel, voltage-gated, type I, alpha subunit2Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S84
SCN2Asodium channel, voltage-gated, type II, alpha subunit2Rare Single Gene Mutation, Syndromic, Functional1109.396
SCN4ASodium channel, voltage gated, type IV alpha subunit17Rare Single Gene Mutation24
SCN8Asodium channel, voltage gated, type VIII, alpha subunit12Rare Single Gene Mutation, Syndromic, Functional152
SCN9Asodium voltage-gated channel alpha subunit 92Rare Single Gene Mutation26
SCP2sterol carrier protein 21Rare Single Gene Mutation22
SDC2syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated, fibroglycan )8Rare Single Gene Mutation, Genetic Association24
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
SENP1SUMO specific peptidase 112Rare Single Gene Mutation32
SETSETnuclear proto-oncogene9Rare Single Gene Mutation25
SETBP1SET binding protein 118Rare Single Gene Mutation, Syndromic125
SETD1ASET domain containing 1A, histone lysine methyltransferase16Rare Single Gene Mutation, Syndromic, Functional14.357
SETD1BSET domain containing 1B12Rare Single Gene Mutation, Syndromic, Functional2S17
SETD2SET domain containing 23Rare Single Gene Mutation, Syndromic117
SETD5SET domain containing 53Rare Single Gene Mutation, Syndromic1S28.0530
SETDB1SET domain, bifurcated 11Rare Single Gene Mutation24
SETDB2SET domain, bifurcated 213Rare Single Gene Mutation, Syndromic22
SEZ6L2SEZ6L2 seizure related 6 homolog (mouse)-like 216Rare Single Gene Mutation, Genetic Association26
SF3B1splicing factor 3b subunit 12Rare Single Gene Mutation25
SGSHN-sulfoglucosamine sulfohydrolase17Rare Single Gene Mutation, SyndromicS6
SGSM3Small G protein signaling modulator 322Rare Single Gene Mutation26
SH3RF1SH3 domain containing ring finger 14Rare Single Gene Mutation, Functional34
SH3RF3SH3 domain containing ring finger 32Rare Single Gene Mutation23
SHANK1SH3 and multiple ankyrin repeat domains 119Rare Single Gene Mutation, Genetic Association212
SHANK2SH3 and multiple ankyrin repeat domains 211Rare Single Gene Mutation, Syndromic, Genetic Association, Functional118.5543
SHANK3SH3 and multiple ankyrin repeat domains 322Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S74.85120
SERPINE1serpin family E member 17Genetic Association22
SHOXshort stature homeoboxX,YRare Single Gene Mutation22
SIK1Salt-inducible kinase 121Rare Single Gene Mutation, Syndromic, FunctionalS6
SIN3ASIN3 transcription regulator family member A15Rare Single Gene Mutation, Syndromic1S14
SIN3BSIN3 transcription regulator family member B19Rare Single Gene Mutation, Syndromic2S5
SKISKIproto-oncogene1Rare Single Gene Mutation14.254
SLC12A5Solute carrier family 12 (potassium/chloride transporter), member 520Rare Single Gene Mutation, Functional28
SLC1A1solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 19Rare Single Gene Mutation, Genetic Association212
SLC1A2Solute carrier family 1 (glial high affinity glutamate transporter), member 211Rare Single Gene Mutation, Genetic Association, FunctionalS8
SLC22A15Solute carrier family 22, member 151Genetic Association21
SLC22A9solute carrier family 22 member 911Rare Single Gene Mutation24
SLC23A1solute carrier family 23 member 15Rare Single Gene Mutation34
SLC24A2solute carrier family 24 member 29Rare Single Gene Mutation23
SLC25A12solute carrier family 25 (mitochondrial carrier, Aralar), member 122Rare Single Gene Mutation, Syndromic, Genetic Association, Functional224
SLC25A27solute carrier family 25 member 276Genetic Association21
SLC25A39solute carrier family 25 member 3917Rare Single Gene Mutation23
SLC27A4Solute carrier family 27 (fatty acid transporter), member 49Rare Single Gene Mutation, Syndromic22
SLC29A4solute carrier family 29 member 47Rare Single Gene Mutation21
SLC35B1solute carrier family 35 member B117Genetic Association21
SLC38A10solute carrier family 38, member 1017Rare Single Gene Mutation22
SLC45A1solute carrier family 45 member 11Rare Single Gene Mutation, SyndromicS4
SLC4A10solute carrier family 4, sodium bicarbonate transporter-like, member 102Rare Single Gene Mutation, Genetic Association26
SLC6A1Solute carrier family 6 (neurotransmitter transporter), member 13Rare Single Gene Mutation, Syndromic, Genetic Association1S31.1543
SLC6A3Solute carrier family 6 (neurotransmitter transporter), member 35Rare Single Gene Mutation, Syndromic, Genetic Association, Functional216
SLC6A4solute carrier family 6 (neurotransmitter transporter, serotonin), member 417Rare Single Gene Mutation, Genetic Association, Functional227
SLC6A8solute carrier family 6 (neurotransmitter transporter, creatine), member 8XRare Single Gene Mutation, Syndromic219
SLC7A3Solute carrier family 7 (cationic amino acid transporter, y+ system), member 3XRare Single Gene Mutation22
SLC7A5solute carrier family 7 member 516Rare Single Gene Mutation, Functional24
SLC7A7solute carrier family 7 member 714Rare Single Gene Mutation23
SLC9A6solute carrier family 9 (sodium/hydrogen exchanger), member 6XRare Single Gene Mutation, Syndromic, Functional1S19
SLC9A9solute carrier family 9 (sodium/hydrogen exchanger), member 93Rare Single Gene Mutation, Genetic Association, Functional214
SLCO1B3Solute carrier organic anion transporter family, member 1B312Rare Single Gene Mutation24
SLITRK2SLIT and NTRK like family member 2XRare Single Gene Mutation, FunctionalS7
SLITRK5SLIT and NTRK like family member 513Rare Single Gene Mutation, Functional29
SMAD4SMAD family member 418Rare Single Gene Mutation27
SMARCA2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 29Rare Single Gene Mutation, Syndromic, Genetic Association1S25
SMARCA4SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 419Rare Single Gene Mutation, Syndromic, Functional117
SMARCC2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 212Rare Single Gene Mutation, Syndromic, Functional1S1015
SMC1Astructural maintenance of chromosomes 1AXRare Single Gene Mutation, SyndromicS14
SMC3structural maintenance of chromosomes 310Rare Single Gene Mutation, Syndromic2S10
SMG6SMG6, nonsense mediated mRNA decay factor17Rare Single Gene Mutation22
SMURF1SMAD specific E3 ubiquitin protein ligase 17Rare Single Gene Mutation22
SNAP25Synaptosomal-associated protein, 25kDa20Rare Single Gene Mutation, Genetic Association28
SND1staphylococcal nuclease and tudor domain containing 17Rare Single Gene Mutation, Genetic Association28
SNTG2syntrophin gamma 22Rare Single Gene Mutation26
SNX14Sorting nexin 146Rare Single Gene Mutation, SyndromicS7
SNX5sorting nexin 520Rare Single Gene Mutation24
SOD1superoxide dismutase 121Rare Single Gene Mutation, Genetic Association, Functional23
SONSONDNA binding protein21Rare Single Gene Mutation, Syndromic, Functional1S1118
SORCS3sortilin related VPS10 domain containing receptor 310Rare Single Gene Mutation, Syndromic, Genetic Association26
SOX5SRY-box 512Rare Single Gene Mutation, Syndromic, Genetic Association1S17.615
SOX6SRY-box transcription factor 611Rare Single Gene Mutation, SyndromicS2
SPARCL1SPARC like 14Rare Single Gene Mutation, Functional24
SPASTSpastin2Rare Single Gene Mutation, Syndromic18.114
SPENspenfamily transcriptional repressor1Rare Single Gene Mutation, Syndromic213
SPP2secreted phosphoprotein 22Rare Single Gene Mutation24
SPRY2sprouty RTK signaling antagonist 213Rare Single Gene Mutation, Functional23
SPTBN1spectrin beta, non-erythrocytic 12Rare Single Gene Mutation, Syndromic2S8
SRCAPSnf2 related CREBBP activator protein16Rare Single Gene Mutation, Syndromic18
SRGAP3SLIT-ROBO Rho GTPase activating protein 33Rare Single Gene Mutation25
SRPRASRP receptor subunit alpha11Rare Single Gene Mutation14.752
SRRM2serine/arginine repetitive matrix 216Rare Single Gene Mutation, Syndromic2S11
SRSF11serine and arginine rich splicing factor 111Rare Single Gene Mutation25
SSRP1structure specific recognition protein 111Rare Single Gene Mutation22
ST7suppression of tumorigenicity 77Rare Single Gene Mutation24
ST8SIA2ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 215Rare Single Gene Mutation, Genetic Association, Functional211
STAG1stromal antigen 13Rare Single Gene Mutation, SyndromicS7
STX1ASyntaxin 1A (brain)7Rare Single Gene Mutation, Genetic Association26
STXBP1Syntaxin binding protein 19Rare Single Gene Mutation, Syndromic, Functional1S19.165
STXBP5Syntaxin binding protein 5 (tomosyn)6Rare Single Gene Mutation26
STYK1Serine/threonine/tyrosine kinase 112Rare Single Gene Mutation, Genetic Association22
SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit14Rare Single Gene Mutation2S7
SYAP1Synapse associated protein 1XRare Single Gene Mutation22
SYBUsyntabulin8Rare Single Gene Mutation31
SYCE1synaptonemal complex central element protein 110Rare Single Gene Mutation31
SYN1Synapsin 1XRare Single Gene Mutation, Functional12.3523
SOS2SOS Ras/Rho guanine nucleotide exchange factor 214Rare Single Gene Mutation, Syndromic5
SYN2Synapsin II3Rare Single Gene Mutation, Genetic Association, Functional26
SYNCRIPsynaptotagmin binding cytoplasmic RNA interacting protein6Rare Single Gene Mutation, Syndromic28
SYNE1spectrin repeat containing, nuclear envelope 16Rare Single Gene Mutation, Genetic Association2S20
SYNGAP1synaptic Ras GTPase activating protein 16Rare Single Gene Mutation, Syndromic, Functional1S40.7582
SYNJ1synaptojanin 121Rare Single Gene Mutation21
SYPsynaptophysinXRare Single Gene Mutation33
SYT1synaptotagmin 112Rare Single Gene Mutation, SyndromicS7
TAF1TATA-box binding protein associated factor 1XRare Single Gene Mutation, SyndromicS13
TAF1CTATA-box binding protein associated factor, RNA polymerase I subunit C16Rare Single Gene Mutation, Genetic Association22
TAF4TATA-box binding protein associated factor 420Rare Single Gene Mutation, SyndromicS4
TAF6TATA-box binding protein associated factor 67Rare Single Gene Mutation23
TANC2etratricopeptide repeat, ankyrin repeat and coiled-coil containing 217Rare Single Gene Mutation, Syndromic, Functional1S24.9513
TAOK1TAO kinase 117Rare Single Gene Mutation, Syndromic1S6
TAOK2TAO kinase 216Rare Single Gene Mutation, Functional27
TBC1D23TBC1 domain family member 233Rare Single Gene Mutation, SyndromicS3
TBC1D31TBC1 domain family, member 318Rare Single Gene Mutation25
TBC1D5TBC1 domain family, member 53Rare Single Gene Mutation, Genetic Association28
TBCKTBC1 domain containing kinase4Rare Single Gene Mutation, Syndromic1S12
TBL1XR1transducin beta like 1 X-linked receptor 13Rare Single Gene Mutation, Syndromic, Functional19.1530
TBR1T-box, brain, 12Rare Single Gene Mutation, Syndromic, Genetic Association, Functional138
TBX1T-box 122Syndromic, FunctionalS5
TBX22T-box transcription factor 22XRare Single Gene Mutation32
TCF20Transcription factor 20 (AR1)22Rare Single Gene Mutation, Syndromic, Functional1S3815
STK39serine threonine kinase 39 (STE20/SPS1 homolog, yeast)2Genetic Association25
SYT17synaptotagmin XVII16Genetic Association22
TBL1Xtransducin (beta)-like 1X-linkedXGenetic Association21
TCF4Transcription factor 418Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S13.561
TCF7L2Transcription factor 7-like 2 (T-cell specific, HMG-box)10Rare Single Gene Mutation, Syndromic12.19
TDO2tryptophan 2,3-dioxygenase4Genetic Association24
TECTAtectorin alpha11Rare Single Gene Mutation27
TEKTEKreceptortyrosine kinase9Rare Single Gene Mutation123
TERB2telomere repeat binding bouquet formation protein 215Rare Single Gene Mutation21
TERF2Telomeric repeat binding factor 216Rare Single Gene Mutation24
TET2Tet methylcytosine dioxygenase 24Rare Single Gene Mutation25
TET3tet methylcytosine dioxygenase 32Rare Single Gene Mutation, SyndromicS4
TFB2Mtranscription factor B2, mitochondrial1Rare Single Gene Mutation31
TFE3transcription factor binding to IGHM enhancer 3XRare Single Gene Mutation, SyndromicS4
THBS1Thrombospondin 115Rare Single Gene Mutation, Genetic Association24
THRAthyroid hormone receptor alpha17Rare Single Gene Mutation, Functional25
TLK2tousled-like kinase 217Rare Single Gene Mutation, Syndromic1S13.518
TM4SF19transmembrane 4 L six family member 193Rare Single Gene Mutation23
TM4SF20Transmembrane 4 L six family member 202Rare Single Gene Mutation, SyndromicS2
TM9SF4transmembrane 9 superfamily member 420Rare Single Gene Mutation10.52
TMEM134transmembrane protein 13411Rare Single Gene Mutation32
TMEM39Btransmembrane protein 39B1Rare Single Gene Mutation24
TMLHEtrimethyllysine hydroxylase, epsilonXRare Single Gene Mutation, Genetic Association26
TNPO3transportin 37Rare Single Gene Mutation36
TNRC6BTrinucleotide repeat containing 6B22Rare Single Gene Mutation, Syndromic215
TNRC6Ctrinucleotide repeat containing adaptor 6C17Rare Single Gene Mutation25
TNS2tensin 212Rare Single Gene Mutation31
TOP2BDNA topoisomerase II beta3Rare Single Gene Mutation, Functional24
TOP3BTopoisomerase (DNA) III beta22Rare Single Gene Mutation, Genetic Association, Functional26
TRAF7TNF receptor associated factor 716Rare Single Gene Mutation, Syndromic1S3.57
TRAPPC2Ltrafficking protein particle complex 2 like16Rare Single Gene Mutation, Syndromic33
TRAPPC6Btrafficking protein particle complex 6B14Rare Single Gene Mutation, SyndromicS6
TRAPPC9trafficking protein particle complex 98Rare Single Gene Mutation, Syndromic218
TRIM23tripartite motif containing 235Rare Single Gene Mutation16
TRIM32tripartite motif containing 329Rare Single Gene Mutation, Functional35
TRIOTrio Rho guanine nucleotide exchange factor5Rare Single Gene Mutation, Syndromic, Functional138
TRIP12Thyroid hormone receptor interactor 122Rare Single Gene Mutation, Syndromic1S2728
TRPC6Transient receptor potential cation channel, subfamily C, member 611Rare Single Gene Mutation27.24
TRPM1transient receptor potential cation channel subfamily M member 115Rare Single Gene Mutation24
TRPM6transient receptor potential cation channel subfamily M member 69Rare Single Gene Mutation36
TRRAPtransformation/transcription domain associated protein7Rare Single Gene Mutation, Syndromic2S10
TSC1tuberous sclerosis 19Rare Single Gene Mutation, Syndromic, Functional1S17.129
TSC2tuberous sclerosis 216Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S45
TSHZ3teashirt zinc finger homeobox 319Rare Single Gene Mutation, Functional14
TSPAN17tetraspanin 175Rare Single Gene Mutation23
TSPAN4tetraspanin 411Rare Single Gene Mutation24
TSPAN7tetraspanin 7XRare Single Gene Mutation28
TSPOAP1TSPO associated protein 117Rare Single Gene Mutation25
TTI2TELO2 interacting protein 28Rare Single Gene MutationS2
TTNtitin2Rare Single Gene Mutation, Syndromic2S26
TUBGCP5tubulin, gamma complex associated protein 515Rare Single Gene Mutation25
UBE3Aubiquitin protein ligase E3A15Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S39
UBE3CUbiquitin protein ligase E3C7Rare Single Gene Mutation24
UBN2ubinuclein 27Rare Single Gene Mutation24
UBR5ubiquitin protein ligase E3 component n-recognin 58Rare Single Gene Mutation29
UIMC1ubiquitin interaction motif containing 15Rare Single Gene Mutation25
UNC13Aunc-13 homolog A19Rare Single Gene Mutation, Syndromic2S8
UNC5Dunc-5 netrin receptor D8Rare Single Gene Mutation33
UNC79unc-79 homolog, NALCN channel complex subunit14Rare Single Gene Mutation, Functional26
UNC80unc-80 homolog, NALCN activator2Rare Single Gene Mutation28
UPF2UPF2, regulator of nonsense mediated mRNA decay10Rare Single Gene Mutation, Functional29
UPF3BUPF3B, regulator of nonsense mediated mRNA decayXRare Single Gene Mutation, Syndromic1S17
USH2Ausherin1Rare Single Gene Mutation27
USP15ubiquitin specific peptidase 1512Rare Single Gene Mutation23
USP30ubiquitin specific peptidase 3012Rare Single Gene Mutation33
USP45Ubiquitin specific peptidase 456Rare Single Gene Mutation24
USP7Ubiquitin specific peptidase 7 (herpes virus-associated)16Rare Single Gene Mutation, Syndromic, Functional2S9
USP9Xubiquitin specific peptidase 9 X-linkedXRare Single Gene Mutation, Syndromic, Functional1S13
USP9Yubiquitin specific peptidase 9, Y-linkedYRare Single Gene Mutation, Genetic Association22
VAMP2vesicle associated membrane protein 217Rare Single Gene Mutation, SyndromicS3
VEZF1vascular endothelial zinc finger 117Rare Single Gene Mutation10.53
VIL1Villin 12Rare Single Gene Mutation23
VPS13Bvacuolar protein sorting 13 homolog B (yeast)8Rare Single Gene Mutation, Syndromic, Functional1S6.3524
VSIG4V-set and immunoglobulin domain containing 4XRare Single Gene Mutation22
VWA7von Willebrand factor A domain containing 76Rare Single Gene Mutation31
WACWW domain containing adaptor with coiled-coil10Rare Single Gene Mutation, Syndromic1S1525
WASF1WAS protein family member 16SyndromicS3
WDFY3WD repeat and FYVE domain containing 34Rare Single Gene Mutation, Syndromic, Functional117.221
WDFY4WDFY family member 410Rare Single Gene Mutation28
WDR26WD repeat domain 261Rare Single Gene Mutation, SyndromicS6
WNK3WNK lysine deficient protein kinase 3XRare Single Gene Mutation26
WNT1Wingless-type MMTV integration site family, member 112Genetic Association23
WWOXWW domain containing oxidoreductase16Rare Single Gene Mutation, Syndromic212
WWP1WW domain containing E3 ubiquitin protein ligase 18Rare Single Gene Mutation32
XPCxeroderma pigmentosum, complementation group C3Rare Single Gene Mutation, SyndromicS11
XPO1exportin 12Rare Single Gene Mutation, Genetic Association27
XRCC6X-ray repair cross complementing 622Rare Single Gene Mutation32
YEATS2YEATS domain containing 23Rare Single Gene Mutation, Genetic Association22
YTHDC2YTH domain containing 25Rare Single Gene Mutation, Genetic Association25
YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon17Rare Single Gene Mutation25
YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma7Rare Single Gene Mutation, Syndromic3S9
YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta8Rare Single Gene Mutation, Syndromic, Genetic Association, Functional314
YY1YY1transcription factor14Rare Single Gene Mutation, Syndromic, Functional1S6
TPOThyroid peroxidase2Genetic Association21
TRIM33Tripartite motif containing 331Genetic Association21
UBE2Hubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)7Genetic Association22
UBR1ubiquitin protein ligase E3 component n-recognin 115Rare Single Gene Mutation11.61
VASH1vasohibin 114Genetic Association24
VDRvitamin D receptor12Genetic Association, Functional210
ZBTB16Zinc finger and BTB domain containing 1611Rare Single Gene Mutation, Genetic Association, Functional23
ZBTB20Zinc finger and BTB domain containing 203Rare Single Gene Mutation, Syndromic1S28
ZBTB7Azinc finger and BTB domain containing 7A19SyndromicS1
ZC3H11Azinc finger CCCH-type containing 11A1Rare Single Gene Mutation23
ZC3H4zinc finger CCCH-type containing 419Rare Single Gene Mutation25
ZFYVE26zinc finger FYVE-type containing 2614Rare Single Gene Mutation25
ZMIZ1zinc finger MIZ-type containing 110Rare Single Gene Mutation, Syndromic2S7
ZMYM2zinc finger MYM-type containing 213Rare Single Gene Mutation, Syndromic2S7
ZMYND11Zinc finger, MYND-type containing 1110Rare Single Gene Mutation, Syndromic213
ZMYND8zinc finger MYND-type containing 820Rare Single Gene Mutation, Syndromic14.57
ZNF18zinc finger protein 1817Rare Single Gene Mutation21
ZNF292zinc finger protein 2926Rare Single Gene Mutation, Syndromic1S10
ZNF385BZinc finger protein 385B2Genetic Association22
ZNF462Zinc finger protein 4629Rare Single Gene Mutation, Syndromic1S10.610
ZNF517Zinc finger protein 5178Rare Single Gene Mutation24
ZNF548zinc finger protein 54819Rare Single Gene Mutation23
ZNF559Zinc finger protein 55919Rare Single Gene Mutation27
ZNF626zinc finger protein 62619Rare Single Gene Mutation22
ZNF711zinc finger protein 711XRare Single Gene Mutation24
ZNF713Zinc finger protein 7137Rare Single Gene Mutation22
ZNF774Zinc finger protein 77415Rare Single Gene Mutation23
ZNF804AZinc finger protein 804A2Rare Single Gene Mutation, Genetic Association, Functional215
ZNF827Zinc finger protein 8274Rare Single Gene Mutation, Genetic Association22
ZSWIM6zinc finger SWIM-type containing 65Rare Single Gene Mutation, Syndromic, Genetic AssociationS5
ZWILCHzwilchkinetochore protein15Rare Single Gene Mutation24
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