Human Gene Module 1176 total genes

Database updated on March 28, 2024

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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 Association28
ABCA10ATP-binding cassette, sub-family A (ABC1), member 1017Rare Single Gene Mutation23
ABCA13ATP binding cassette subfamily A member 137Rare Single Gene Mutation, Functional211
ABCA7ATP-binding cassette, sub-family A (ABC1), member 719Rare Single Gene Mutation26
ABCE1ATP binding cassette subfamily E member 14Rare Single Gene Mutation13
ABL2ABL proto-oncogene 2, non-receptor tyrosine kinase1Rare Single Gene Mutation, Functional310
ACEangiotensin I converting enzyme17Rare Single Gene Mutation, Genetic Association25
ACHEAcetylcholinesterase (Yt blood group)7Rare Single Gene Mutation27
ACTBactin beta7Rare Single Gene Mutation, Syndromic1S110
ACTL6Bactin like 6B7Rare Single Gene Mutation, Syndromic, FunctionalS14
ACTN4actinin alpha 419Rare Single Gene Mutation26
ACY1aminoacylase 13Rare Single Gene Mutation, SyndromicS12
ADAadenosine deaminase20Rare Single Gene Mutation, Genetic Association28
ADCY3adenylate cyclase 32Rare Single Gene Mutation24
ADCY5Adenylate cyclase 53Rare Single Gene Mutation210
ADGRL1adhesion G protein-coupled receptor L119Rare Single Gene Mutation, Syndromic3S5
ADKadenosine kinase10Rare Single Gene Mutation22
ADNPActivity-dependent neuroprotector homeobox20Rare Single Gene Mutation, Syndromic, Functional1S41.582
ADORA3Adenosine A3 receptor1Rare Single Gene Mutation, Functional24
ADSLadenylosuccinate lyase22Rare Single Gene Mutation, Syndromic1S0.359
ADSS2adenylosuccinate synthase 21Rare Single Gene Mutation23
AFF2AF4/FMR2 family, member 2XRare Single Gene Mutation, Syndromic18.721
AGAP1ArfGAP with GTPase domain, ankyrin repeat and PH domain 12Rare Single Gene Mutation210
AGAP2ArfGAP with GTPase domain, ankyrin repeat and PH domain 212Rare Single Gene Mutation23.256
AGAP5ArfGAP with GTPase domain, ankyrin repeat and PH domain 510Rare Single Gene Mutation32
AGBL4ATP/GTP binding protein-like 41Rare Single Gene Mutation23
AGMOalkylglycerol monooxygenase7Rare Single Gene Mutation, Genetic Association28
AGO1argonaute 1, RISC catalytic component1Rare Single Gene Mutation215
AGO2argonaute RISC catalytic component 28Rare Single Gene Mutation, Syndromic2S2
AGO3argonaute RISC catalytic component 31Rare Single Gene Mutation28
AGO4argonaute RISC catalytic component 41Rare Single Gene Mutation25
AGTR2angiotensin II receptor, type 2XRare Single Gene Mutation25
AHDC1AT-hook DNA binding motif containing 11Rare Single Gene Mutation, Syndromic1S14.2529
AHI1Abelson helper integration site 16Rare Single Gene Mutation, Syndromic, Genetic AssociationS22
AHNAKAHNAKnucleoprotein11Rare Single Gene Mutation26
AKAP9A kinase (PRKA) anchor protein 97Rare Single Gene Mutation28
ALDH1A3aldehyde dehydrogenase 1 family member A315Rare Single Gene Mutation, SyndromicS7
ALDH1L1aldehyde dehydrogenase 1 family member L13Rare Single Gene Mutation37
ALDH5A1aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase )6Rare Single Gene Mutation, Syndromic, Functional1S2.3516
ALG6ALG6, alpha-1,3-glucosyltransferase1Rare Single Gene Mutation, SyndromicS2
AMPD1Adenosine monophosphate deaminase 11Rare Single Gene Mutation, Genetic Association25
AMTAminomethyltransferase3Rare Single Gene Mutation22
ANK2Ankyrin 2, neuronal4Rare Single Gene Mutation, Functional110.834
ANK3ankyrin 310Rare Single Gene Mutation, Genetic Association, Functional17.334
ANKRD11ankyrin repeat domain 1116Rare Single Gene Mutation, Syndromic1S22.675
ANKRD17ankyrin repeat domain 174Rare Single Gene Mutation, Syndromic2S6
ANKS1Bankyrin repeat and sterile alpha motif domain containing 1B12Rare Single Gene Mutation, Syndromic, Functional2S6
ANP32Aacidic nuclear phosphoprotein 32 family member A15Rare Single Gene Mutation, Functional14
ANXA1Annexin A19Rare Single Gene Mutation22
AP1S2adaptor related protein complex 1 sigma 2 subunitXRare Single Gene Mutation, SyndromicS7
AP2M1adaptor related protein complex 2 subunit mu 13Rare Single Gene Mutation29
AP2S1adaptor related protein complex 2 subunit sigma 119Rare Single Gene Mutation10.23
APBA2amyloid beta (A4) precursor protein-binding, family A, member 215Rare Single Gene Mutation28
APBB1amyloid beta precursor protein binding family B member 111Rare Single Gene Mutation, Functional24
APH1AAPH1A gamma secretase subunit1Rare Single Gene Mutation23
ARF3ADP ribosylation factor 312Rare Single Gene Mutation, Syndromic15
ARHGAP11BRho GTPase activating protein 11B15Rare Single Gene Mutation23
ARHGAP32Rho GTPase activating protein 3211Rare Single Gene Mutation, Functional210
ARHGAP5Rho GTPase activating protein 514Rare Single Gene Mutation26
ARHGEF10Rho guanine nucleotide exchange factor 108Rare Single Gene Mutation, Functional26
ARHGEF2Rho/Rac guanine nucleotide exchange factor 21Rare Single Gene Mutation, Syndromic37
ADORA2Aadenosine A2a receptor22Genetic Association27
ADRB2adrenergic, beta-2-, receptor, surface5Genetic Association210
ARHGEF9Cdc42 guanine nucleotide exchange factor (GEF) 9XRare Single Gene Mutation, Syndromic1S14.218
ARID1BAT-rich interaction domain 1B6Rare Single Gene Mutation, Syndromic, Functional1S34.7586
ARandrogen receptorXGenetic Association26
ARID2AT-rich interaction domain 212Rare Single Gene Mutation, Syndromic2S17
ARNT2aryl-hydrocarbon receptor nuclear translocator 215Rare Single Gene Mutation, Syndromic, Genetic Association, Functional215
ARXaristaless related homeoboxXRare Single Gene Mutation, Syndromic1S13.827
ASAP2ArfGAP with SH3 domain, ankyrin repeat and PH domain 22Rare Single Gene Mutation25
ASB14ankyrin repeat and SOCS box containing 143Rare Single Gene Mutation25
ASH1LAsh1 (absent, small, or homeotic)-like (Drosophila)1Rare Single Gene Mutation, Syndromic, Genetic Association, Functional114.1534
ASMTacetylserotonin O-methyltransferaseX,YRare Single Gene Mutation, Genetic Association211
ASPMabnormal spindle microtubule assembly1Rare Single Gene Mutation, Syndromic, Functional213
ASTN2astrotactin 29Rare Single Gene Mutation, Genetic Association, Functional22.520
ASXL3Additional sex combs like 3 (Drosophila)18Rare Single Gene Mutation, Syndromic1S28.8550
ATP10AProbable phospholipid-transporting ATPase VA15Rare Single Gene Mutation, Genetic Association, Functional210
ATP1A1ATPase Na+/K+ transporting subunit alpha 11Rare Single Gene Mutation, Syndromic2S8
ATP1A3ATPase Na+/K+ transporting subunit alpha 319Rare Single Gene Mutation, Syndromic, Functional2S25
ATP2B1ATPase plasma membrane Ca2+ transporting 112Rare Single Gene Mutation, Syndromic3S2
ATP2B2ATPase, Ca++ transporting, plasma membrane 23Rare Single Gene Mutation, Genetic Association215
ATP6V0A2ATPase H+ transporting V0 subunit a212Rare Single Gene Mutation25
ATRXalpha thalassemia/mental retardation syndrome X-linkedXRare Single Gene Mutation, Syndromic, Functional133
AUTS2activator of transcription and developmental regulatorAUTS27Rare Single Gene Mutation, Syndromic, Genetic Association, Functional135.564
AVPR1Aarginine vasopressin receptor 1A12Rare Single Gene Mutation, Genetic Association224
AZGP1alpha-2-glycoprotein 1, zinc-binding7Rare Single Gene Mutation24
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 Mutation17.358
BBS4Bardet-Biedl syndrome 415Rare Single Gene Mutation, Syndromic26
BCAS1breast carcinoma amplified sequence 120Rare Single Gene Mutation25
BCKDKBranched chain ketoacid dehydrogenase kinase16Rare Single Gene Mutation13.18
BCL11AB-cell CLL/lymphoma 11A (zinc finger protein)2Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S9.1526
BCL11BBCL11 transcription factor B14Rare Single Gene Mutation, Syndromic, Functional37
BCORL1BCL6 corepressor like 1XRare Single Gene Mutation, SyndromicS8
BICRABRD4 interacting chromatin remodeling complex associated protein19Rare Single Gene Mutation, Syndromic2S2
BIRC6Baculoviral IAP repeat containing 62Rare Single Gene Mutation213
BRAFv-raf murine sarcoma viral oncogene homolog B7Rare Single Gene Mutation, Syndromic1S18
BRCA2breast cancer 2, early onset13Rare Single Gene Mutation28
BRD4bromodomain containing 419Rare Single Gene Mutation, Syndromic, Functional211
BRINP3BMP/retinoic acid inducible neural specific 31Rare Single Gene Mutation, Functional33
BRSK2BR serine/threonine kinase 211Rare Single Gene Mutation, Syndromic, Functional1S7.712
BRWD3bromodomain and WD repeat domain containing 3XRare Single Gene Mutation, SyndromicS9
BST1bone marrow stromal cell antigen 14Rare Single Gene Mutation, Genetic Association, Functional26
BTAF1RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae)10Rare Single Gene Mutation29
BTRCbeta-transducin repeat containing E3 ubiquitin protein ligase10Rare Single Gene Mutation24
C12orf57Chromosome 12 open reading frame 5712Rare Single Gene Mutation, SyndromicS15
C15orf62chromosome 15 open reading frame 6215Rare Single Gene Mutation23
C4Bcomplement component 4B6Rare Single Gene Mutation, Genetic Association, Functional26
CA6carbonic anhydrase VI1Rare Single Gene Mutation27
CACNA1ACalcium channel, voltage-dependent, P/Q type, alpha 1A subunit19Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S43
AVPR1Barginine vasopressin receptor 1B1Genetic Association, Functional28
BICDL1BICD family like cargo adaptor 112Genetic Association22
CACNA1Bcalcium voltage-gated channel subunit alpha1 B9Rare Single Gene Mutation, Syndromic, Genetic Association214
CACNA1Ccalcium channel, voltage-dependent, L type, alpha 1C subunit12Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S63
CACNA1Dcalcium channel, voltage-dependent, L type, alpha 1D3Rare Single Gene Mutation, Syndromic, Genetic Association, Functional212.731
CACNA1Ecalcium voltage-gated channel subunit alpha1 E1Rare Single Gene Mutation123
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 Association227
CACNA1Hcalcium channel, voltage-dependent, alpha 1H subunit16Rare Single Gene Mutation234
CACNA1ICalcium channel, voltage-dependent, T type, alpha 1I subunit22Rare Single Gene Mutation, Genetic Association210
CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 17Rare Single Gene Mutation, Syndromic28
CACNA2D3Calcium channel, voltage-dependent, alpha 2/delta subunit 33Rare Single Gene Mutation, Functional13.7513
CACNB1calcium voltage-gated channel auxiliary subunit beta 117Rare Single Gene Mutation33
CACNB2Calcium channel, voltage-dependent, beta 2 subunit10Rare Single Gene Mutation, Genetic Association, Functional212
CACNG2calcium voltage-gated channel auxiliary subunit gamma 222Rare Single Gene Mutation26
CADM1cell adhesion molecule 111Rare Single Gene Mutation210
CADM2Cell adhesion molecule 23Rare Single Gene Mutation, Genetic Association26
CADPScalcium dependent secretion activator3Rare Single Gene Mutation, Genetic Association25
CADPS2Ca2+-dependent activator protein for secretion 27Rare Single Gene Mutation, Functional213
CAMK2Acalcium/calmodulin dependent protein kinase II alpha5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional2S12
CAMK2Bcalcium/calmodulin dependent protein kinase II beta7Rare Single Gene Mutation, SyndromicS11
CAMK4calcium/calmodulin dependent protein kinase IV5Rare Single Gene Mutation, Genetic Association26
CAMTA2calmodulin binding transcription activator 217Rare Single Gene Mutation, Syndromic13
CAPN12Calpain 1219Rare Single Gene Mutation27
CAPRIN1Cell cycle associated protein 111Rare Single Gene Mutation, Syndromic, Functional15.56
CAMK2Dcalcium/calmodulin dependent protein kinase II delta4Rare Single Gene Mutation, Syndromic3S2
CARD11caspase recruitment domain family member 117Rare Single Gene Mutation22
CASKcalcium/calmodulin dependent serine protein kinaseXRare Single Gene Mutation, Syndromic, Functional128
CASKIN1CASK interacting protein 116Rare Single Gene Mutation, Functional28
CASZ1castor zinc finger 11Rare Single Gene Mutation19.557
CATcatalase11Rare Single Gene Mutation, Functional34
CBX1chromobox 117Rare Single Gene Mutation, Syndromic3S3
CC2D1ACoiled-coil and C2 domain containing 1A19Rare Single Gene Mutation, Functional218
CCDC88CCoiled-coil domain containing 88C14Rare Single Gene Mutation29
CCDC91coiled-coil domain containing 9112Rare Single Gene Mutation26
CCINcalicin9Rare Single Gene Mutation22
CCNG1cyclin G15Rare Single Gene Mutation22
CCNKcyclin K14Rare Single Gene Mutation, SyndromicS6
CCSER1coiled-coil serine rich protein 14Rare Single Gene Mutation24
CCT4Chaperonin containing TCP1, subunit 4 (delta)2Rare Single Gene Mutation23
CD276CD276molecule15Rare Single Gene Mutation24
CD38CD38 molecule4Rare Single Gene Mutation, Genetic Association, Functional210
CDC42BPBCDC42 binding protein kinase beta (DMPK-like)14Rare Single Gene Mutation, Syndromic212
CDH10cadherin 10, type 2 (T2-cadherin)5Rare Single Gene Mutation, Genetic Association211
CDH11cadherin 1116Rare Single Gene Mutation, Syndromic, Functional28
CDH13cadherin 1316Rare Single Gene Mutation26
CDH2cadherin 218Rare Single Gene Mutation, Syndromic3S8
CDH8cadherin 8, type 216Rare Single Gene Mutation212
CDH9cadherin 9, type 2 (T1-cadherin)5Rare Single Gene Mutation, Genetic Association27
CDK13cyclin dependent kinase 137Rare Single Gene Mutation, SyndromicS21
CDK16cyclin dependent kinase 16XRare Single Gene Mutation23
CDK19cyclin dependent kinase 196Rare Single Gene Mutation, Syndromic3S7
CDK5RAP2CDK5 regulatory subunit associated protein 29Rare Single Gene Mutation, Syndromic314
CDK8cyclin dependent kinase 813Rare Single Gene Mutation, SyndromicS5
CDKL5cyclin-dependent kinase-like 5XRare Single Gene Mutation, Syndromic, Functional1S58
CDONcell adhesion associated, oncogene regulated11Rare Single Gene Mutation34
CECR2CECR2, histone acetyl-lysine reader22Rare Single Gene Mutation23
CELF2CUGBP Elav-like family member 210Rare Single Gene Mutation, Syndromic2S4
CELF4CUGBP, Elav-like family member 418Rare Single Gene Mutation, Functional18.515
CELF6CUGBP, Elav-like family member 615Rare Single Gene Mutation, Genetic Association25
CEP135centrosomal protein 1354Rare Single Gene Mutation, Syndromic27
CEP290Centrosomal protein 290kDa12Rare Single Gene Mutation, Syndromic2S14
CEP41testis specific, 147Rare Single Gene Mutation, Syndromic26
CERT1ceramide transporter 15Rare Single Gene Mutation, Syndromic3S7
CGNL1Cingulin-like 115Rare Single Gene Mutation27
CHAMP1chromosome alignment maintaining phosphoprotein 113Rare Single Gene Mutation, Syndromic, Functional1S17
CHD1chromodomain helicase DNA binding protein 15Rare Single Gene Mutation, Syndromic2S13
CHD2Chromodomain helicase DNA binding protein 215Rare Single Gene Mutation, Syndromic, Functional1S2580
CHD3chromodomain helicase DNA binding protein 317Rare Single Gene Mutation, Syndromic1S17
CHD7chromodomain helicase DNA binding protein 78Rare Single Gene Mutation, Syndromic, Functional1S8.146
CHD8chromodomain helicase DNA binding protein 814Rare Single Gene Mutation, Syndromic, Functional1S97.65104
CHD9chromodomain helicase DNA binding protein 916Rare Single Gene Mutation38
CHKBCholine kinase beta22Rare Single Gene Mutation, SyndromicS9
CHMCHMRab escort proteinXRare Single Gene Mutation37
CHMP1Acharged multivesicular body protein 1A16Rare Single Gene Mutation, Syndromic25
CHRM3cholinergic receptor muscarinic 31Rare Single Gene Mutation, Genetic Association27
CHRNA7cholinergic receptor, nicotinic, alpha 715Rare Single Gene Mutation216
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, Syndromic, Functional118.714
CLASP1cytoplasmic linker associated protein 12Rare Single Gene Mutation24
CLCN4chloride voltage-gated channel 4XRare Single Gene Mutation, Syndromic2S11
CLN8Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)8Rare Single Gene Mutation, Syndromic26
CLTCL1clathrin, heavy chain-like 122Rare Single Gene Mutation28
CMIPc-Maf inducing protein16Rare Single Gene Mutation, Genetic Association26
CMPK2cytidine/uridine monophosphate kinase 22Rare Single Gene Mutation24
CNGB3cyclic nucleotide gated channel beta 38Rare Single Gene Mutation26
CNKSR2connector enhancer of kinase suppressor of Ras 2XRare Single Gene Mutation, Syndromic, Functional2S14
CNOT1CCR4-NOT transcription complex subunit 116Rare Single Gene Mutation, Syndromic2S9
CNOT3CCR4-NOT transcription complex subunit 319Rare Single Gene Mutation, Syndromic1S5.620
CD99L2CD99 molecule like 2XGenetic Association21
CDH22cadherin-like 2220Genetic Association24
CLIP2CAP-Gly domain containing linker protein 27Genetic Association31
CNR1cannabinoid receptor 1 (brain)6Rare Single Gene Mutation, Genetic Association28
CNTN3contactin 33Rare Single Gene Mutation26
CNTN4contactin 43Rare Single Gene Mutation, Syndromic, Genetic Association, Functional227
CNTN5Contactin 511Rare Single Gene Mutation, Genetic Association211
CNTN6Contactin 63Rare Single Gene Mutation, Genetic Association213.817
CNTNAP2contactin associated protein-like 27Rare Single Gene Mutation, Syndromic, Genetic Association, Functional2S98
CNTNAP3contactin associated protein-like 39Rare Single Gene Mutation, Functional27
CNTNAP4Contactin associated protein-like 416Rare Single Gene Mutation, Functional215
CNTNAP5contactin associated protein-like 52Rare Single Gene Mutation, Genetic Association216
COL28A1collagen type XXVIII alpha 1 chain7Rare Single Gene Mutation25
CORO1Acoronin 1A16Rare Single Gene Mutation10.73
CPEB4cytoplasmic polyadenylation element binding protein 45Rare Single Gene Mutation, Functional23
CPSF7cleavage and polyadenylation specific factor 711Rare Single Gene Mutation17
CPT2carnitine palmitoyltransferase 21Rare Single Gene Mutation25
CPZcarboxypeptidase Z4Rare Single Gene Mutation25
CREBBPCREB binding protein16Rare Single Gene Mutation, Syndromic, Genetic Association1S31.3541
CSDE1cold shock domain containing E11Rare Single Gene Mutation, Syndromic, Functional1S15.557
CSMD1CUB and Sushi multiple domains 18Rare Single Gene Mutation, Genetic Association219
CSMD3CUB and Sushi multiple domains 38Rare Single Gene Mutation, Functional310
CSNK1Ecasein kinase 1 epsilon22Rare Single Gene Mutation, Functional28
CSNK1G1casein kinase 1 gamma 115Rare Single Gene Mutation, Syndromic3S3
CSNK2A1casein kinase 2 alpha 120Rare Single Gene Mutation, Syndromic, Functional1S6.217
CSNK2Bcasein kinase 2 beta6Rare Single Gene Mutation, SyndromicS11
CTCFCCCTC-binding factor16Rare Single Gene Mutation, Syndromic, Functional1S10.4525
CTNNA2catenin alpha 22Rare Single Gene Mutation, SyndromicS5
CTNNA3catenin (cadherin-associated protein), alpha 310Rare Single Gene Mutation, Genetic Association219
CTNNB1catenin beta 13Rare Single Gene Mutation, Syndromic132.7541
CTNND2Catenin (cadherin-associated protein), delta 25Rare Single Gene Mutation, Syndromic, Functional215
CTR9CTR9homolog, Paf1/RNA polymerase II complex component11Rare Single Gene Mutation, Syndromic3S9
CTTNBP2cortactin binding protein 27Rare Single Gene Mutation, Syndromic, Functional224.815
CUL3Cullin 32Rare Single Gene Mutation, Genetic Association, Functional118.435
CUL7Cullin 76Rare Single Gene Mutation28
CUX1cut like homeobox 17Rare Single Gene Mutation, Functional214
CUX2cut like homeobox 212Rare Single Gene Mutation, Syndromic2S15
CX3CR1Chemokine (C-X3-C motif) receptor 13Rare Single Gene Mutation, Functional24
CYFIP1cytoplasmic FMR1 interacting protein 115Rare Single Gene Mutation, Genetic Association, Functional223
CYLC2cylicin, basic protein of sperm head cytoskeleton 29Rare Single Gene Mutation24
CYP27A1cytochrome P450 family 27 subfamily A member 12Rare Single Gene Mutation, SyndromicS6
DAGLAdiacylglycerol lipase alpha11Rare Single Gene Mutation, Functional27
DAPP1Dual adaptor of phosphotyrosine and 3-phosphoinositides4Rare Single Gene Mutation23
DCCDCCnetrin 1 receptor18Rare Single Gene Mutation, Genetic Association26
DDCdopa decarboxylase7Rare Single Gene Mutation, Genetic Association27
DDHD2DDHD domain containing 28Rare Single Gene Mutation, Genetic Association, Functional27
DDX23DEAD-box helicase 2312Rare Single Gene Mutation, SyndromicS2
DDX3XDEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linkedXRare Single Gene Mutation, Syndromic, Functional1S78.653
DDX53DEAD (Asp-Glu-Ala-Asp) box polypeptide 53XRare Single Gene Mutation25.255
DEAF1DEAF1 transcription factor11Rare Single Gene Mutation, Syndromic1S30.932
DENRdensity-regulated protein12Rare Single Gene Mutation, Functional24
DEPDC5DEP domain containing 522Rare Single Gene Mutation, Syndromic, FunctionalS23
DGKIdiacylglycerol kinase iota7Rare Single Gene Mutation, Genetic Association34
DHCR77-dehydrocholesterol reductase11Rare Single Gene Mutation, Syndromic1S20
DHX30DExH-box helicase 303Rare Single Gene Mutation, SyndromicS11
DHX9DExH-box helicase 91Rare Single Gene Mutation, Syndromic3S5
DIP2ADIP2 disco-interacting protein 2 homolog A (Drosophila)21Rare Single Gene Mutation, Functional118.214
DIP2Cdisco interacting protein 2 homolog C10Rare Single Gene Mutation27
DIPK2Adivergent protein kinase domain 2A3Rare Single Gene Mutation23
DISC1disrupted in schizophrenia 11Rare Single Gene Mutation, Syndromic, Genetic Association, Functional24.638
DIXDC1DIX domain containing 111Rare Single Gene Mutation, Functional26
DLG1discs large MAGUK scaffold protein 13Rare Single Gene Mutation26
DLG2discs large MAGUK scaffold protein 211Rare Single Gene Mutation, Functional214
DLG4discs large MAGUK scaffold protein 417Rare Single Gene Mutation, Syndromic, Functional12.4525
DLGAP1DLG associated protein 118Rare Single Gene Mutation, Functional213
DLGAP2discs, large (Drosophila) homolog-associated protein 28Rare Single Gene Mutation22.818
DLGAP3DLG associated protein 31Rare Single Gene Mutation, Genetic Association, Functional212
DLL1delta like canonical Notch ligand 16Rare Single Gene Mutation, Syndromic2S6
DLX3distal-less homeobox 317Rare Single Gene Mutation24
DLX6distal-less homeobox 67Rare Single Gene Mutation210
DMDdystrophin (muscular dystrophy, Duchenne and Becker types)XRare Single Gene Mutation, Syndromic, Genetic AssociationS46
DMPKdystrophia myotonica-protein kinase19Rare Single Gene Mutation, Syndromic1S3.7512
DMWDDM1 locus, WD repeat containing19Rare Single Gene Mutation24
DMXL2Dmx-like 215Rare Single Gene Mutation29
DNAH10Dynein, axonemal, heavy chain 1012Rare Single Gene Mutation210
DNAH17dynein axonemal heavy chain 1717Rare Single Gene Mutation29
DNAH3dynein axonemal heavy chain 316Rare Single Gene Mutation28
DNERDelta/notch-like EGF repeat containing2Rare Single Gene Mutation, Genetic Association23
DNM1dynamin 19Rare Single Gene Mutation310
DNMT3ADNA (cytosine-5-)-methyltransferase 3 alpha2Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S15.932
CYP11B1cytochrome P450, family 11, subfamily B, polypeptide 18Syndromic24
DLX2distal-less homeobox 22Genetic Association211
DOCK1Dedicator of cytokinesis 110Rare Single Gene Mutation23
DOCK4Dedicator of cytokinesis 47Rare Single Gene Mutation, Genetic Association, Functional211
DOCK8dedicator of cytokinesis 89Rare Single Gene Mutation212
DOLKdolichol kinase9Rare Single Gene Mutation, SyndromicS4
DPP10Dipeptidyl-peptidase 102Rare Single Gene Mutation213
DPP3dipeptidyl peptidase 311Rare Single Gene Mutation24
DPP4Dipeptidyl-peptidase 42Rare Single Gene Mutation, Genetic Association26
DPP6dipeptidyl-peptidase 67Rare Single Gene Mutation, Genetic Association, Functional228
DPYDdihydropyrimidine dehydrogenase1Rare Single Gene Mutation, Syndromic, Genetic Association215
DPYSL2dihydropyrimidinase like 28Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1117
DPYSL3dihydropyrimidinase like 35Rare Single Gene Mutation23
DRD1Dopamine receptor D15Genetic Association, Functional24
DRD2Dopamine receptor D211Rare Single Gene Mutation, Genetic Association27
DRD3dopamine receptor D33Rare Single Gene Mutation, Genetic Association29
DSCAMDown syndrome cell adhesion molecule21Rare Single Gene Mutation, Genetic Association, Functional113.518
DSTDystonin6Rare Single Gene Mutation211
DUSP15dual specificity phosphatase 1520Rare Single Gene Mutation, Genetic Association27
DVL3Dishevelled segment polarity protein 33Rare Single Gene Mutation, Functional26
DYDC1DPY30 domain containing 110Rare Single Gene Mutation22
DYDC2DPY30 domain containing 21021
DYNC1H1dynein cytoplasmic 1 heavy chain 114Rare Single Gene Mutation, Syndromic, Functional113.4536
DYRK1ADual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A21Rare Single Gene Mutation, Syndromic, Functional1S20.280
EBF3early B-cell factor 310Rare Single Gene Mutation, Syndromic, Functional1S9.7522
ECPASEcm29 proteasome adaptor and scaffold9Rare Single Gene Mutation, Functional24
EEF1A2Eukaryotic translation elongation factor 1 alpha 220Rare Single Gene Mutation, SyndromicS23
EFR3AEFR3 homolog A (S. cerevisiae)8Rare Single Gene Mutation29
EGR3early growth response 38Rare Single Gene Mutation23
EHMT1Euchromatic histone-lysine N-methyltransferase 19Rare Single Gene Mutation, Syndromic, Functional1S13.542
EIF3Geukaryotic translation initiation factor 3 subunit G19Rare Single Gene Mutation11.55
EIF4Eeukaryotic translation initiation factor 4E4Rare Single Gene Mutation, Genetic Association23.613
EIF4G1eukaryotic translation initiation factor 4 gamma 13Rare Single Gene Mutation, Functional34
EIF5Aeukaryotic translation initiation factor 5A17Rare Single Gene Mutation, Syndromic34
ELAVL2ELAV like neuron-specific RNA binding protein 29Rare Single Gene Mutation, Genetic Association, Functional27
ELAVL3ELAV like neuron-specific RNA binding protein 319Rare Single Gene Mutation116
ELOVL2ELOVL fatty acid elongase 26Rare Single Gene Mutation, Genetic Association22
ELP2elongator acetyltransferase complex subunit 218Syndromic2S6
ELP4Elongator acetyltransferase complex subunit 411Rare Single Gene Mutation, Genetic Association27
EMSYEMSY, BRCA2 interacting transcriptional repressor11Rare Single Gene Mutation, Functional25
EN2engrailed homolog 27Rare Single Gene Mutation, Genetic Association, Functional226
ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 16Rare Single Gene Mutation35
EP300E1A binding protein p30022Rare Single Gene Mutation, Syndromic1S23.626
EP400E1A binding protein p40012Rare Single Gene Mutation, Functional210
EPC2Enhancer of polycomb homolog 2 (Drosophila)2Rare Single Gene Mutation26
EPHA1EPH receptor A17Rare Single Gene Mutation28
EPHB1EPH receptor B13Rare Single Gene Mutation310
EPHB2EPH receptor B21Rare Single Gene Mutation, Functional29
EPPK1epiplakin 18Rare Single Gene Mutation28
ERBINerbb2 interacting protein5Rare Single Gene Mutation29
ERMNermin2Rare Single Gene Mutation21
ESR2estrogen receptor 2 (ER beta)14Rare Single Gene Mutation, Syndromic, Genetic Association29
ESRRBestrogen-related receptor beta14Rare Single Gene Mutation, Genetic Association29
ETFBElectron-transfer-flavoprotein, beta polypeptide19Rare Single Gene Mutation25
EXOC3exocyst complex component 35Rare Single Gene Mutation23
EXOC5exocyst complex component 514Rare Single Gene Mutation22
EXOC6exocyst complex component 610Rare Single Gene Mutation23
EXOC6Bexocyst complex component 6B2Rare Single Gene Mutation25
EXT1Exostosin 18Rare Single Gene Mutation, Genetic Association27
FABP4fatty acid binding protein 48Rare Single Gene Mutation33
FABP5fatty acid binding protein 5 (psoriasis-associated)8Rare Single Gene Mutation, Functional28
FAM47Afamily with sequence similarity 47 member AXRare Single Gene Mutation20.451
FAM98Cfamily with sequence similarity 98 member C19Rare Single Gene Mutation24
FAN1FANCD2/FANCI-associated nuclease 115Rare Single Gene Mutation, Genetic Association, Functional25
ERGERG, ETS transcription factor21Genetic Association21
FAT1FAT atypical cadherin 14Rare Single Gene Mutation, Functional213
FBN1Fibrillin 115Rare Single Gene Mutation, Syndromic215
FBRSL1fibrosin like 112Rare Single Gene Mutation, SyndromicS3
FBXL13F-box and leucine rich repeat protein 137Rare Single Gene Mutation32
FBXO11F-box protein 112Rare Single Gene Mutation, Syndromic2S12
FBXO33F-box protein 3314Rare Single Gene Mutation, Genetic Association24
FBXO40F-box protein 403Rare Single Gene Mutation, Genetic Association26
FCRL6Fc receptor like 61Rare Single Gene Mutation24
FEZF2FEZ family zinc finger 23Rare Single Gene Mutation, Genetic Association210
FGAFibrinogen alpha chain4Rare Single Gene Mutation, Genetic Association25
FGF13fibroblast growth factor 13XSyndromic3S2
FGF14fibroblast growth factor 1413Rare Single Gene Mutation32
FGFR1fibroblast growth factor receptor 18Rare Single Gene Mutation, Genetic Association24
FHITfragile histidine triad gene3Rare Single Gene Mutation, Genetic Association212
FLNAfilamin AXRare Single Gene Mutation, Syndromic, Functional311
FMR1fragile X mental retardation 1XRare Single Gene Mutation, Syndromic, Genetic Association, Functional1S67
FOXG1Forkhead box G114Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S5.757
FOXP1forkhead box P13Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S60.4572
FOXP2forkhead box P27Rare Single Gene Mutation, Genetic Association, Functional156
FRG1FSHD region gene 14Rare Single Gene Mutation22
FRKfyn-related kinase6Rare Single Gene Mutation, Genetic Association23
FRMPD4FERM and PDZ domain containing 4XRare Single Gene Mutation, SyndromicS9
FXNfrataxin9Rare Single Gene Mutation32
G3BP2G3BP stress granule assembly factor 24Rare Single Gene Mutation26
GABBR2gamma-aminobutyric acid type B receptor subunit 29Rare Single Gene Mutation, Syndromic, Functional2S15
GABRA3Gamma-aminobutyric acid (GABA) A receptor, alpha 3XRare Single Gene Mutation, SyndromicS3
GABRA4gamma-aminobutyric acid (GABA) A receptor, alpha 44Rare Single Gene Mutation, Genetic Association, Functional29
GABRB2gamma-aminobutyric acid type A receptor subunit beta25Rare Single Gene Mutation10.36
GABRB3gamma-aminobutyric acid (GABA) A receptor, beta 315Rare Single Gene Mutation, Genetic Association, Functional152
FRMD5FERM domain containing 515Rare Single Gene Mutation, Syndromic, Functional3S5
FRYLFRY like transcription coactivator4Rare Single Gene Mutation, Syndromic3S8
GABRG2gamma-aminobutyric acid type A receptor subunit gamma 25Rare Single Gene Mutation, Genetic Association311
GABRG3gamma-aminobutyric acid type A receptor gamma3 subunit15Rare Single Gene Mutation, Genetic Association213
GALNT10polypeptide N-acetylgalactosaminyltransferase 105Rare Single Gene Mutation, Genetic Association27
GALNT13polypeptide N-acetylgalactosaminyltransferase 132Rare Single Gene Mutation25
GALNT14polypeptide N-acetylgalactosaminyltransferase 142Rare Single Gene Mutation, Genetic Association27
GALNT2polypeptide N-acetylgalactosaminyltransferase 21Rare Single Gene Mutation, SyndromicS6
GALNT8polypeptide N-acetylgalactosaminyltransferase 812Rare Single Gene Mutation23
GAS2Growth arrest-specific 211Genetic Association21
GATMGlycine amidinotransferase (L-arginine:glycine amidinotransferase)15SyndromicS2
GBE11,4-alpha-glucan branching enzyme 13Rare Single Gene Mutation25
GDAguanine deaminase9Rare Single Gene Mutation, Genetic Association23
GFAPglial fibrillary acidic protein17Rare Single Gene Mutation10.31
GGNBP2gametogenetin binding protein 217Rare Single Gene Mutation23
GIGYF1GRB10 interacting GYF protein 17Rare Single Gene Mutation117.2520
GIGYF2GRB10 interacting GYF protein 22Rare Single Gene Mutation19
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, Syndromic1S2.16
GNASGNAS complex locus20Rare Single Gene Mutation29
GNB1Lguanine nucleotide binding protein (G protein), beta polypeptide 1-like22Rare Single Gene Mutation, Genetic Association23
GNB2G protein subunit beta 27Rare Single Gene Mutation, SyndromicS6
GPC4glypican 4XRare Single Gene Mutation22
GPC5glypican 513Rare Single Gene Mutation39
GPC6glypican 613Rare Single Gene Mutation, Genetic Association28
GPD2glycerol-3-phosphate dehydrogenase 22Rare Single Gene Mutation, Genetic Association25
GPHNGephyrin14Rare Single Gene Mutation210
GPR37G protein-coupled receptor 377Rare Single Gene Mutation23
GPR85G protein-coupled receptor 857Rare Single Gene Mutation, Genetic Association25
GPX1glutathione peroxidase 13Rare Single Gene Mutation, Genetic Association26
GRB10growth factor receptor bound protein 107Rare Single Gene Mutation, Functional312
GRIA1glutamate ionotropic receptor AMPA type subunit 15Rare Single Gene Mutation, Syndromic212
GRIA2glutamate ionotropic receptor AMPA type subunit 24Rare Single Gene Mutation11212
GRIA3glutamate ionotropic receptor AMPA type subunit 3XRare Single Gene Mutation, Syndromic, FunctionalS16
GRID1Glutamate receptor, ionotropic, delta 110Rare Single Gene Mutation, Genetic Association27
GRID2glutamate receptor, ionotropic, delta 24Rare Single Gene Mutation, Syndromic, Genetic Association211
GRID2IPGrid2 interacting protein7Rare Single Gene Mutation25
GRIK2glutamate ionotropic receptor kainate type subunit 26Rare Single Gene Mutation, Genetic Association222
GRIK3glutamate ionotropic receptor kainate type subunit 31Rare Single Gene Mutation, Genetic Association27
GRIK4Glutamate receptor, ionotropic, kainate 411Rare Single Gene Mutation, Functional27
GRIK5Glutamate receptor, ionotropic, kainate 519Rare Single Gene Mutation210
GRIN1Glutamate receptor, ionotropic, N-methyl D-aspartate 19Rare Single Gene Mutation, Syndromic, Functional128
GRIN2Aglutamate receptor, ionotropic, N-methyl D-aspartate 2A16Rare Single Gene Mutation, Syndromic, Genetic Association, Functional13.663
GRIN2Bglutamate receptor, inotropic, N-methyl D-apartate 2B12Rare Single Gene Mutation, Syndromic, Genetic Association, Functional129.6585
GRIP1glutamate receptor interacting protein 112Rare Single Gene Mutation214
GRK4G protein-coupled receptor kinase 44Rare Single Gene Mutation, Functional26
GRM5glutamate metabotropic receptor 511Rare Single Gene Mutation, Genetic Association, Functional211
GRM7Glutamate receptor, metabotropic 73Rare Single Gene Mutation, Genetic Association, Functional218
GSTM1glutathione S-transferase M11Genetic Association23
GTF2Igeneral transcription factor IIi7Rare Single Gene Mutation, Syndromic, Genetic Association, Functional211
GUCY1A2guanylate cyclase 1 soluble subunit alpha 211Rare Single Gene Mutation, Genetic Association23
H1-4H1.4 linker histone, cluster member6Rare Single Gene Mutation, SyndromicS10
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, SyndromicS6
HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 16Rare Single Gene Mutation, Syndromic312
HCFC1host cell factor C1XRare Single Gene Mutation, SyndromicS12
HCN1Hyperpolarization activated cyclic nucleotide-gated potassium channel 15Rare Single Gene Mutation, Genetic Association314
HDAC4histone deacetylase 42Rare Single Gene Mutation, Syndromic, Genetic Association2S18
HDAC8histone deacetylase 8XRare Single Gene Mutation, SyndromicS3.712
HDLBPhigh density lipoprotein binding protein2Rare Single Gene Mutation11.256
HECTD4HECT domain E3 ubiquitin protein ligase 412Rare Single Gene Mutation, Syndromic110
HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 22Rare Single Gene Mutation, Syndromic219
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, Functional2S14
HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 215Rare Single Gene Mutation, SyndromicS10
HIVEP2HIVEP zinc finger 26Rare Single Gene Mutation, Syndromic, Functional1S13
HIVEP3human immunodeficiency virus type I enhancer binding protein 31Rare Single Gene Mutation, Genetic Association29
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
HLA-Gmajor histocompatibility complex, class I, G6Genetic Association24
HMGN1high mobility group nucleosome binding domain 121Genetic Association21
HNRNPDheterogeneous nuclear ribonucleoprotein D4Rare Single Gene Mutation, Syndromic2S5
HNRNPFheterogeneous nuclear ribonucleoprotein F10Rare Single Gene Mutation24
HNRNPH2heterogeneous nuclear ribonucleoprotein H2XRare Single Gene Mutation, Syndromic120
HNRNPKheterogeneous nuclear ribonucleoprotein K9Rare Single Gene Mutation, Syndromic2S11
HNRNPRheterogeneous nuclear ribonucleoprotein R1Rare Single Gene Mutation, Syndromic, Functional2S7
HNRNPUheterogeneous nuclear ribonucleoprotein U1Rare Single Gene Mutation, Syndromic, Functional1S38.840
HNRNPUL2heterogeneous nuclear ribonucleoprotein U like 211Rare Single Gene Mutation, Syndromic2S4
HOMER1Homer homolog 1 (Drosophila)5Rare Single Gene Mutation, Functional26
HOXA1homeobox A17Rare Single Gene Mutation, Syndromic, Genetic AssociationS16
HRASv-Ha-ras Harvey rat sarcoma viral oncogene homolog11Rare Single Gene Mutation, Syndromic, Genetic Association112
HS3ST5heparan sulfate (glucosamine) 3-O-sulfotransferase 56Rare Single Gene Mutation, Genetic Association28
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, Functional29
HTR3C5-hydroxytryptamine (serotonin) receptor 3, family member C3Rare Single Gene Mutation, Genetic Association28
HUWE1HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligaseXRare Single Gene Mutation, SyndromicS27
HYDINHYDIN, axonemal central pair apparatus protein16Rare Single Gene Mutation, Genetic Association25
ICA1islet cell autoantigen 17Rare Single Gene Mutation210
IGF1insulin like growth factor 112Rare Single Gene Mutation, Functional38
IKZF1IKAROS family zinc finger 17Rare Single Gene Mutation36
IL1R2interleukin 1 receptor, type II2Rare Single Gene Mutation28
IL1RAPL1interleukin 1 receptor accessory protein-like 1XRare Single Gene Mutation227
IL1RAPL2interleukin 1 receptor accessory protein-like 2XRare Single Gene Mutation, Genetic Association22
ILF2Interleukin enhancer binding factor 21Rare Single Gene Mutation26
IMMP2LIMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)7Rare Single Gene Mutation, Genetic Association, Functional217
INPP1inositol polyphosphate-1-phosphatase2Rare Single Gene Mutation, Genetic Association25
INTS1integrator complex subunit 17Rare Single Gene Mutation, SyndromicS10
INTS6Integrator complex subunit 613Rare Single Gene Mutation26
IQGAP3IQ motif containing GTPase activating protein 31Rare Single Gene Mutation26
IQSEC2IQ motif and Sec7 domain 2XRare Single Gene Mutation, Syndromic, Functional1S51
IRF2BPLInterferon regulatory factor 2 binding protein-like14Rare Single Gene Mutation, Syndromic1S916
ITGA8integrin subunit alpha 810Rare Single Gene Mutation37
ITGB3integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)17Rare Single Gene Mutation, Genetic Association, Functional222
ITPR1inositol 1,4,5-trisphosphate receptor type 13Rare Single Gene Mutation217
ITSN1intersectin 121Rare Single Gene Mutation, Syndromic210
JARID2jumonji and AT-rich interaction domain containing 26Rare Single Gene Mutation, Syndromic, Genetic Association218
JMJD1Cjumonji domain containing 1C10Rare Single Gene Mutation210
KANK1KN motif and ankyrin repeat domains 19Rare Single Gene Mutation212
KANSL1KAT8 regulatory NSL complex subunit 117Rare Single Gene Mutation, Syndromic, Functional1S1.113
KAT2BK(lysine) acetyltransferase 2B3Rare Single Gene Mutation, Functional28
KAT6AK(lysine) acetyltransferase 6A8Rare Single Gene Mutation, Syndromic, Functional2S32
KAT6Blysine acetyltransferase 6B10Rare Single Gene Mutation, Syndromic38
KATNAL1katanin catalytic subunit A1 like 113Rare Single Gene Mutation, Functional24
KATNAL2Katanin p60 subunit A-like 218Rare Single Gene Mutation, Functional14.115
KCNA2potassium voltage-gated channel subfamily A member 21Rare Single Gene Mutation311
KCNA3potassium voltage-gated channel subfamily A member 31Rare Single Gene Mutation32
KCNB1potassium voltage-gated channel subfamily B member 120Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S28
KCNC1potassium voltage-gated channel subfamily C member 111Rare Single Gene Mutation, Functional210
KCNC2potassium voltage-gated channel subfamily C member 212Rare Single Gene Mutation313
KCND2potassium voltage-gated channel subfamily D member 27Rare Single Gene Mutation, Genetic Association29
KCND3potassium voltage-gated channel subfamily D member 31Rare Single Gene Mutation, Syndromic, Genetic Association213
KCNH5potassium voltage-gated channel subfamily H member 514Rare Single Gene Mutation35
KCNJ10potassium voltage-gated channel subfamily J member 101Rare Single Gene Mutation, Syndromic, Genetic Association213
KCNJ15potassium voltage-gated channel subfamily J member 1521Rare Single Gene Mutation23
KCNK7potassium two pore domain channel subfamily K member 711Rare Single Gene Mutation23
KCNMA1potassium large conductance calcium-activated channel, subfamily M, alpha member 110Rare Single Gene Mutation, Syndromic231
KCNQ2potassium voltage-gated channel subfamily Q member 220Rare Single Gene Mutation, Syndromic, Genetic Association, Functional257
KCNQ3potassium voltage-gated channel subfamily Q member 38Rare Single Gene Mutation, Genetic Association, Functional111.121
KCNS3potassium voltage-gated channel modifier subfamily S member 32Rare Single Gene Mutation26
KCTD13Potassium channel tetramerisation domain containing 1316Rare Single Gene Mutation, Functional29
KDM1Blysine demethylase 1B6Rare Single Gene Mutation23
KDM2Alysine demethylase 2A11Rare Single Gene Mutation39
KDM2Blysine demethylase 2B12Rare Single Gene Mutation, Syndromic, Functional110
KDM3Alysine demethylase 3A2Rare Single Gene Mutation34
KDM3Blysine demethylase 3B5Rare Single Gene Mutation, Syndromic1S1.55
KDM4Blysine demethylase 4B19Rare Single Gene Mutation, Syndromic, Functional26
KDM4Clysine demethylase 4C9Rare Single Gene Mutation24
KDM5Alysine demethylase 5A12Rare Single Gene Mutation, Functional25
KDM5BLysine (K)-specific demethylase 5B1Rare Single Gene Mutation, Syndromic, Functional12.824
KDM5Clysine demethylase 5CXRare Single Gene Mutation, Syndromic, Functional141
KDM6Alysine demethylase 6AXRare Single Gene Mutation, Syndromic214
KDM6BLysine (K)-specific demethylase 6B17Rare Single Gene Mutation, Syndromic, Functional113.7522
KHDRBS2KH domain containing, RNA binding, signal transduction associated 26Rare Single Gene Mutation24
KIAA0232KIAA02324Rare Single Gene Mutation14
KIAA1586KIAA15866Rare Single Gene Mutation26
KIF13BKinesin family member 13B8Rare Single Gene Mutation24
KIF14kinesin family member 141Rare Single Gene Mutation, Syndromic27
KIF1Akinesin family member 1A2Rare Single Gene Mutation, Syndromic2S14
KIF5CKinesin family member 5C2Rare Single Gene Mutation, Syndromic, Functional2S14
KIRREL3Kin of IRRE like 3 (Drosophila)11Rare Single Gene Mutation219
KLF16Kruppel like factor 1619Rare Single Gene Mutation21
KLF7Kruppel like factor 72Rare Single Gene Mutation, Functional314
KLHL20kelch like family member 201Rare Single Gene Mutation, Syndromic, Functional14
KMT2ALysine (K)-specific methyltransferase 2A11Rare Single Gene Mutation, Syndromic, Functional1S50
KMT2CLysine (K)-specific methyltransferase 2C7Rare Single Gene Mutation, Syndromic, Functional1S36
KMT2ELysine (K)-specific methyltransferase 2E7Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S20
KMT5Blysine methyltransferase 5B11Rare Single Gene Mutation, Syndromic, Functional127
KNG1kininogen 13Rare Single Gene Mutation32
KPTNkaptin, actin binding protein19Rare Single Gene Mutation, Syndromic, FunctionalS9
KRR1KRR1, small subunit (SSU) processome component, homolog (yeast)12Rare Single Gene Mutation, Genetic Association23
KRT26keratin 2617Rare Single Gene Mutation24
LAMA1Laminin, alpha 118Rare Single Gene Mutation, Syndromic, Genetic Association212
LAMB1laminin, beta 17Rare Single Gene Mutation, Genetic Association211
LAS1LLAS1 like ribosome biogenesis factorXRare Single Gene Mutation, Syndromic35
LDB1LIM domain binding 110Rare Single Gene Mutation144
LDLRlow density lipoprotein receptor19Rare Single Gene Mutation33
LEMD3LEM domain containing 312Rare Single Gene Mutation23
LEO1LEO1 homolog, Paf1/RNA polymerase II complex component15Rare Single Gene Mutation24
LEPLeptin7Rare Single Gene Mutation21
LHX2LIM homeobox 29Rare Single Gene Mutation, Syndromic24
LILRB2leukocyte immunoglobulin like receptor B219Rare Single Gene Mutation23
LIN7Blin-7 homolog B, crumbs cell polarity complex component19Rare Single Gene Mutation23
LMTK3lemur tyrosine kinase 319Rare Single Gene Mutation, Functional36
LNPKlunapark, ER junction formation factor2Rare Single Gene Mutation, Syndromic, FunctionalS4
LRBALPS-responsive vesicle trafficking, beach and anchor containing4Rare Single Gene Mutation29
LRFN2leucine rich repeat and fibronectin type III domain containing 26Rare Single Gene Mutation, Genetic Association, Functional26
LRFN5leucine rich repeat and fibronectin type III domain containing 514Rare Single Gene Mutation, Genetic Association, Functional27
LRP1LDL receptor related protein 112Rare Single Gene Mutation210
LRP2LDL receptor related protein 22Rare Single Gene Mutation, Syndromic, Genetic Association220
LRRC1leucine rich repeat containing 16Rare Single Gene Mutation, Genetic Association27
LRRC4leucine rich repeat containing 47Rare Single Gene Mutation, Functional25
LRRC4Cleucine rich repeat containing 4C11Rare Single Gene Mutation11.252
LZTR1Leucine-zipper-like transcription regulator 122Rare Single Gene Mutation, Syndromic118
MACF1microtubule actin crosslinking factor 11Rare Single Gene Mutation, Syndromic, Functional3S9
MACROD2MACRO domain containing 220Rare Single Gene Mutation, Genetic Association222
MAGEL2MAGE-like 215Rare Single Gene Mutation, Syndromic, Functional1S25
MAOAmonoamine oxidase AXRare Single Gene Mutation, Syndromic, Genetic Association, Functional220
MAOBmonoamine oxidase BXRare Single Gene Mutation, Syndromic, Genetic Association, Functional26
MAP1Amicrotubule associated protein 1A15Rare Single Gene Mutation14
MAP1Bmicrotubule associated protein 1B5Rare Single Gene Mutation, Syndromic, Functional213
MAP4K1mitogen-activated protein kinase kinase kinase kinase 119Rare Single Gene Mutation35
MAP4K4mitogen-activated protein kinase kinase kinase kinase 42Rare Single Gene Mutation, Syndromic22
MAPK3mitogen-activated protein kinase 316Rare Single Gene Mutation, Functional26
MAPK8IP1mitogen-activated protein kinase 8 interacting protein 111Rare Single Gene Mutation34
MAPTmicrotubule associated protein tau17Rare Single Gene Mutation, Genetic Association, Functional34
MARK1microtubule affinity regulating kinase 11Rare Single Gene Mutation, Genetic Association212
MARK2microtubule affinity regulating kinase 211Rare Single Gene Mutation25
MAST3microtubule associated serine/threonine kinase 319Rare Single Gene Mutation, Functional37
MBD1methyl-CpG binding domain protein 118Rare Single Gene Mutation29
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, Functional1S46.643
MBD6Methyl-CpG binding domain protein 612Rare Single Gene Mutation23
MBOAT7membrane bound O-acyltransferase domain containing 719Rare Single Gene Mutation, Syndromic1S5.2520
MCM4minichromosome maintenance complex component 48Rare Single Gene Mutation24
MCM6minichromosome maintenance complex component 62Rare Single Gene Mutation, Syndromic24
MCPH1microcephalin 18Rare Single Gene Mutation219
MDGA2MAM domain containing glycosylphosphatidylinositol anchor 214Rare Single Gene Mutation, Genetic Association29
MECP2Methyl CpG binding protein 2XRare Single Gene Mutation, Syndromic, Functional1S106.65130
KIZkizuna centrosomal protein20Genetic Association, Functional32
LMX1BLIM homeobox transcription factor 1 beta9Genetic Association21
LZTS2leucine zipper, putative tumor suppressor 210Genetic Association24
MAGEC3MAGE family member C3XRare Single Gene Mutation14
MAPT-AS1MAPT antisense RNA 117Genetic Association21
MED12Lmediator complex subunit 12L3Rare Single Gene Mutation, Syndromic2S7
MED13mediator complex subunit 1317Rare Single Gene Mutation, Syndromic1S9.314
MED13LMediator complex subunit 13-like12Rare Single Gene Mutation, Syndromic1S3554
MED23mediator complex subunit 236Rare Single Gene Mutation, Functional24
MEF2Cmyocyte enhancer factor 2C5Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S9.8553
MEGF10multiple EGF like domains 105Rare Single Gene Mutation, Genetic Association28
MEGF11multiple EGF like domains 1115Rare Single Gene Mutation, Functional29
MEIS2Meis homeobox 215Rare Single Gene Mutation, Syndromic1S7.513
MEMO1mediator of cell motility 12Rare Single Gene Mutation, Functional22
METmet proto-oncogene (hepatocyte growth factor receptor)7Rare Single Gene Mutation, Genetic Association, Functional242
METTL26methyltransferase like 2616Rare Single Gene Mutation22
MFRPMembrane frizzled-related protein11Rare Single Gene Mutation28
MIB1Mindbomb E3 ubiquitin protein ligase 118Rare Single Gene Mutation23.610
MINK1misshapen like kinase 117Rare Single Gene Mutation38
MIR137microRNA 1371Rare Single Gene Mutation, Syndromic, Genetic Association, Functional210
MKXmohawk homeobox10Rare Single Gene Mutation10.33
MLANAmelan-A9Rare Single Gene Mutation24
MRTFBmyocardin related transcription factor B16Rare Single Gene Mutation, Syndromic, Genetic Association212
MSANTD2Myb/SANT DNA binding domain containing 211Rare Single Gene Mutation22
MSL2MSL complex subunit 23Rare Single Gene Mutation35
MSL3MSL complex subunit 3XRare Single Gene Mutation, Syndromic1S6
MSR1macrophage scavenger receptor 18Rare Single Gene Mutation25
MSRAmethionine sulfoxide reductase A8Rare Single Gene Mutation, Genetic Association, Functional313
MSX2msh homeobox 25Rare Single Gene Mutation, Syndromic3S2
MTF1metal-regulatory transcription factor 11Rare Single Gene Mutation, Syndromic, Genetic Association26
MTHFRmethylenetetrahydrofolate reductase (NAD(P)H)1Rare Single Gene Mutation, Syndromic, Genetic Association, Functional224
MTORmechanistic target of rapamycin kinase1Rare Single Gene Mutation, Syndromic, Functional1S34
MTSS2MTSS I-BAR domain containing 216Rare Single Gene Mutation, SyndromicS5
MUC12mucin 12, cell surface associated7Rare Single Gene Mutation24
MUC4mucin 4, cell surface associated3Rare Single Gene Mutation29
MYCBP2MYC binding protein 213Rare Single Gene Mutation, Syndromic19
MYH10myosin heavy chain 1017Rare Single Gene Mutation28
MYH4Myosin, heavy chain 4, skeletal muscle17Rare Single Gene Mutation27
MYH9myosin heavy chain 922Rare Single Gene Mutation28
MYLKmyosin light chain kinase3Rare Single Gene Mutation34
MYO16myosin XVI13Rare Single Gene Mutation, Genetic Association210
MYO1Emyosin IE15Rare Single Gene Mutation26
MYO5Amyosin VA15Rare Single Gene Mutation, Genetic Association27
MYO5Cmyosin VC15Rare Single Gene Mutation25
MYO9BMyosin IXB19Rare Single Gene Mutation26
MYOCDmyocardin17Rare Single Gene Mutation33
MYT1LMyelin transcription factor 1-like2Rare Single Gene Mutation, Syndromic, Genetic Association, Functional120.3539
NAA10N-alpha-acetyltransferase 10, NatA catalytic subunitXRare Single Gene Mutation, Syndromic3S13
NAA15N(alpha)-acetyltransferase 15, NatA auxiliary subunit4Rare Single Gene Mutation, Syndromic1S31.724
NAALADL2N-acetylated alpha-linked acidic dipeptidase-like 23Rare Single Gene Mutation, Genetic Association24
MNTMAX network transcriptional repressor17Genetic Association21
NACC1nucleus accumbens associated 119Rare Single Gene Mutation, Syndromic1S11
NASPnuclear autoantigenic sperm protein1Rare Single Gene Mutation33
NAV2neuron navigator 211Rare Single Gene Mutation, Syndromic213
NAV3neuron navigator 312Rare Single Gene Mutation25
NBEAneurobeachin13Rare Single Gene Mutation, Syndromic, Functional1S26
NCAPH2non-SMC condensin II complex subunit H222Rare Single Gene Mutation31
NCKAP1NCK-associated protein 12Rare Single Gene Mutation, Syndromic124.7515
MSNP1ASMoesinpseudogene 1, antisense5Genetic Association, Functional213
NCKAP5NCK-associated protein 52Rare Single Gene Mutation23
NCOA1nuclear receptor coactivator 12Rare Single Gene Mutation134
NCOR1nuclear receptor corepressor 117Rare Single Gene Mutation, Functional212
NDUFA5NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa7Genetic Association23
NEGR1neuronal growth regulator 11Rare Single Gene Mutation, Genetic Association, Functional26
NEO1Neogenin 115Rare Single Gene Mutation23
NEXMIFneurite extension and migration factorXRare Single Gene Mutation, Syndromic, Functional136
NF1neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)17Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S9.339
NFE2L3nuclear factor, erythroid 2 like 37Rare Single Gene Mutation26
NFIAnuclear factor I/A1Rare Single Gene Mutation, Syndromic218
NFIBnuclear factor I B9Rare Single Gene Mutation, Syndromic2S7
NFIXnuclear factor I/X (CCAAT-binding transcription factor)19Rare Single Gene Mutation, SyndromicS20
NINLNinein-like20Rare Single Gene Mutation210
NIPA1non imprinted in Prader-Willi/Angelman syndrome 115Rare Single Gene Mutation26
NIPA2non imprinted in Prader-Willi/Angelman syndrome 215Rare Single Gene Mutation23
NIPBLNipped-B homolog (Drosophila)5Rare Single Gene Mutation, Syndromic1S15.319
NKX2-2NK2 homeobox 220Genetic Association, Functional32
NLGN1neuroligin 13Rare Single Gene Mutation, Genetic Association, Functional221
NLGN2Neuroligin 217Rare Single Gene Mutation, Functional1313
NLGN3neuroligin 3XRare Single Gene Mutation, Genetic Association, Functional16.549
NLGN4Xneuroligin 4, X-linkedXRare Single Gene Mutation, Syndromic, Genetic Association, Functional11244
NLGN4Yneuroligin 4, Y-linkedYRare Single Gene Mutation, Genetic Association, Functional26
NOVA2NOVA alternative splicing regulator 219Rare Single Gene Mutation, SyndromicS3
NPAS2neuronal PAS domain protein 22Genetic Association24
NPFFR2neuropeptide FF receptor 24Rare Single Gene Mutation37
NR1D1nuclear receptor subfamily 1 group D member 117Rare Single Gene Mutation24
NOTCH1notch receptor 19Rare Single Gene Mutation, Functional210
NPTNneuroplastin15Rare Single Gene Mutation33
NR2F1nuclear receptor subfamily 2 group F member 15Rare Single Gene Mutation, Syndromic, Genetic Association, Functional2S27
NR3C2Nuclear receptor subfamily 3, group C, member 24Rare Single Gene Mutation, Syndromic1S12
NR4A2nuclear receptor subfamily 4 group A member 22Rare Single Gene Mutation, Syndromic17.7510
NRCAMneuronal cell adhesion molecule7Rare Single Gene Mutation, Genetic Association26
NRP2neuropilin 22Rare Single Gene Mutation, Genetic Association210
NRXN1neurexin 12Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1143.75113
NRXN2neurexin 211Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1717
NRXN3neurexin 314Rare Single Gene Mutation, Genetic Association, Functional111.127
NSD1nuclear receptor binding SET domain protein 15Rare Single Gene Mutation, Syndromic, Functional1S22.934
NSD2nuclear receptor binding SET domain protein 24Rare Single Gene Mutation, Syndromic, Functional2S13
NSMCE3NSE3 homolog, SMC5-SMC6 complex component15Rare Single Gene Mutation, Functional25
NTNG1netrin G11Rare Single Gene Mutation, Syndromic, Genetic Association2S8
NTNG2netrin G29Rare Single Gene Mutation, SyndromicS6
NTRK1neurotrophic tyrosine kinase, receptor, type 11Rare Single Gene Mutation, Syndromic29
NTRK2neurotrophic receptor tyrosine kinase 29Rare Single Gene Mutation, SyndromicS8
NTRK3neurotrophic tyrosine kinase, receptor, type 315Rare Single Gene Mutation, Syndromic, Genetic Association215
NUAK1NUAK family, SNF1-like kinase, 112Rare Single Gene Mutation, Functional26
NUDCD2NudC domain containing 25Rare Single Gene Mutation24
NUP133nucleoporin 133kDa1Rare Single Gene Mutation25
NUP155nucleoporin 1555Rare Single Gene Mutation10.14
NXF1nuclear RNA export factor 111Rare Single Gene Mutation32
NXPH1neurexophilin 17Rare Single Gene Mutation26
OCRLoculocerebrorenal syndrome of LoweXRare Single Gene Mutation, SyndromicS10
OFD1OFD1, centriole and centriolar satellite proteinXRare Single Gene Mutation, Syndromic25
OPHN1oligophrenin 1XRare Single Gene Mutation, Syndromic219
OR1C1olfactory receptor, family 1, subfamily C, member 11Rare Single Gene Mutation24
OR2T10olfactory receptor family 2 subfamily T member 101Rare Single Gene Mutation24
OR52M1Olfactory receptor, family 52, subfamily M, member 111Rare Single Gene Mutation23
OTUD7AOTU deubiquitinase 7A15Rare Single Gene Mutation, Functional27
OXToxytocin/neurophysin I prepropeptide20Rare Single Gene Mutation, Genetic Association25
OXTRoxytocin receptor3Rare Single Gene Mutation, Genetic Association, Functional250
P2RX5Purinergic receptor P2X, ligand gated ion channel, 517Rare Single Gene Mutation25
P4HA2Prolyl 4-hydroxylase, alpha polypeptide II5Rare Single Gene Mutation25
PABPC1poly(A) binding protein cytoplasmic 18Rare Single Gene Mutation, Syndromic3S6
PACS1phosphofurin acidic cluster sorting protein 111Rare Single Gene Mutation, Syndromic, Functional1S1.3520
PACS2phosphofurin acidic cluster sorting protein 214Rare Single Gene Mutation, Syndromic, FunctionalS10
PAFAH1B2platelet activating factor acetylhydrolase 1b catalytic subunit 211Rare Single Gene Mutation24
PAHPhenylalanine hydroxylase12Rare Single Gene Mutation, Syndromic112
PAK1p21 (RAC1) activated kinase 111Rare Single Gene Mutation, SyndromicS7
PAK2p21 (RAC1) activated kinase 23Rare Single Gene Mutation, Syndromic26
PAPOLGpoly(A) polymerase gamma2Rare Single Gene Mutation26
PARD3BPar-3 partitioning defective 3 homolog B (C. elegans)2Rare Single Gene Mutation, Genetic Association29
PATJPATJ, crumbs cell polarity complex component1Rare Single Gene Mutation, Genetic Association26
PAX5Paired box 59Rare Single Gene Mutation15.7510
PAX6Paired box 611Rare Single Gene Mutation, Syndromic, FunctionalS9
PBX1PBX homeobox 11Rare Single Gene Mutation28
OR2M4Olfactory receptor, family 2, subfamily M, member 41Genetic Association21
OTX1orthodenticle homeobox 12Genetic Association23
PCpyruvate carboxylase11Rare Single Gene Mutation38
PCCApropionyl-CoA carboxylase alpha subunit13Rare Single Gene Mutation, SyndromicS13
PCCBpropionyl-CoA carboxylase beta subunit3Rare Single Gene Mutation, Syndromic1S12
PCDH10protocadherin 104Rare Single Gene Mutation, Functional211
PCDH11Xprotocadherin 11 X-linkedXRare Single Gene Mutation21.14
PCDH15protocadherin related 1510Rare Single Gene Mutation, Syndromic, Genetic Association211
PCDH19protocadherin 19XRare Single Gene Mutation, Syndromic, Functional1S59
PCDH9protocadherin 913Rare Single Gene Mutation, Genetic Association, Functional211
PCDHA1Protocadherin alpha 15Rare Single Gene Mutation, Syndromic, Genetic Association24
PCDHA10Protocadherin alpha 105Rare Single Gene Mutation, Genetic Association26
PCDHA11Protocadherin alpha 115Rare Single Gene Mutation, Genetic Association26
PCDHA12Protocadherin alpha 125Rare Single Gene Mutation, Genetic Association25
PCDHA13Protocadherin alpha 135Rare Single Gene Mutation, Genetic Association25
PCDHA2Protocadherin alpha 25Rare Single Gene Mutation, Genetic Association25
PCDHA3Protocadherin alpha 35Rare Single Gene Mutation, Genetic Association25
PCDHA4Protocadherin alpha 45Rare Single Gene Mutation, Genetic Association26
PCDHA5Protocadherin alpha 55Rare Single Gene Mutation, Genetic Association27
PCDHA6Protocadherin alpha 65Rare Single Gene Mutation, Genetic Association24
PCDHA7Protocadherin alpha 75Rare Single Gene Mutation, Genetic Association27
PCDHA8Protocadherin alpha 85Rare Single Gene Mutation, Genetic Association25
PCDHA9Protocadherin alpha 95Rare Single Gene Mutation, Genetic Association24
PCDHAC1Protocadherin alpha subfamily C, 15Rare Single Gene Mutation, Genetic Association25
PCDHAC2Protocadherin alpha subfamily C, 25Rare Single Gene Mutation, Genetic Association24
PCLOpiccolo presynaptic cytomatrix protein7Rare Single Gene Mutation, Syndromic, Genetic Association, Functional211
PCM1pericentriolar material 18Rare Single Gene Mutation26
PDCD1programmed cell death 12Rare Single Gene Mutation24
PDE1Cphosphodiesterase 1C7Rare Single Gene Mutation, Genetic Association23
PDE3Bphosphodiesterase 3B11Rare Single Gene Mutation38
PDK2pyruvate dehydrogenase kinase 217Rare Single Gene Mutation26
PDZD8PDZ domain containing 810Rare Single Gene Mutation, Syndromic, FunctionalS3
PEBP4phosphatidylethanolamine binding protein 48Rare Single Gene Mutation32
PER1period homolog 1 (Drosophila)17Rare Single Gene Mutation, Genetic Association29
PER2period circadian clock 22Rare Single Gene Mutation26.758
PEX7peroxisomal biogenesis factor 76Rare Single Gene Mutation, Genetic Association25
PHB1prohibitin 117Genetic Association21
PHF12PHD finger protein 1217Rare Single Gene Mutation19.55
PHF14PHD finger protein 147Rare Single Gene Mutation, Syndromic36
PHF2PHD finger protein 29Rare Single Gene Mutation14.258
PDHA1pyruvate dehydrogenase E1 subunit alpha 1XRare Single Gene Mutation35
PHF21APHD finger protein 21A11Rare Single Gene Mutation, Syndromic1S5.3517
PHF3PHD finger protein 36Rare Single Gene Mutation19.755
PHF7PHD finger protein 73Rare Single Gene Mutation24
PHF8PHD finger protein 8XRare Single Gene Mutation, SyndromicS13
PHIPpleckstrin homology domain interacting protein6Rare Single Gene Mutation, Syndromic1S25
PHLPP1PH domain and leucine rich repeat protein phosphatase 118Rare Single Gene Mutation35
PHRF1PHD and ring finger domains 111Rare Single Gene Mutation25
PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha3Rare Single Gene Mutation, Syndromic38
PIK3CGphosphoinositide-3-kinase, catalytic, gamma polypeptide7Rare Single Gene Mutation, Genetic Association25
PIK3R2phosphoinositide-3-kinase regulatory subunit 219Rare Single Gene Mutation, SyndromicS10
PITX1paired-like homeodomain 15Rare Single Gene Mutation, Genetic Association26
PJA1praja ring finger ubiquitin ligase 1XSyndromic3S1
PLAURPlasminogen activator, urokinase receptor19Rare Single Gene Mutation, Genetic Association23
PLCB1phospholipase C, beta 1 (phosphoinositide-specific)20Rare Single Gene Mutation29
PLCD4phospholipase C delta 42Rare Single Gene Mutation25
PLEKHA8pleckstrin homology domain containing A87Rare Single Gene Mutation32
PLNphospholamban6Rare Single Gene Mutation24
PLPPR4phospholipid phosphatase related 41Rare Single Gene Mutation, Functional37
PLXNA3plexin A3XRare Single Gene Mutation, Syndromic28
PLXNA4Plexin A47Rare Single Gene Mutation, Functional26
PLXNB1plexin B13Rare Single Gene Mutation25
PNPLA7patatin like phospholipase domain containing 79Rare Single Gene Mutation26
POGZPogo transposable element with ZNF domain1Rare Single Gene Mutation, Syndromic, Functional1S35.461
POLA2DNA polymerase alpha 2, accessory subunit11Rare Single Gene Mutation27
POLR2ARNA polymerase II subunit A17Rare Single Gene Mutation, Syndromic3S11
POLR3ARNA polymerase III subunit A10Rare Single Gene Mutation, Syndromic3S11
POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)1Rare Single Gene Mutation, Syndromic1S110
POMT1protein O-mannosyltransferase 19Rare Single Gene Mutation24
POT1Protection of telomeres 1 homolog (S. pombe)7Rare Single Gene Mutation23
POU3F3POU class 3 homeobox 32Rare Single Gene Mutation, SyndromicS4
PPFIA1PTPRF interacting protein alpha 111Rare Single Gene Mutation25
PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D17Rare Single Gene Mutation, Syndromic2S10
PPP1R1BProtein phosphatase 1, regulatory (inhibitor) subunit 1B17Rare Single Gene Mutation, Genetic Association22
PPFIA3PTPRF interacting protein alpha 319Rare Single Gene Mutation, Syndromic, Functional3S8
PPP1R9Bprotein phosphatase 1 regulatory subunit 9B17Rare Single Gene Mutation11.54
PPP2CAprotein phosphatase 2 catalytic subunit alpha5Rare Single Gene Mutation, SyndromicS4
PPP2R1Bprotein phosphatase 2 regulatory subunit A, beta11Rare Single Gene Mutation28
PPP2R5DProtein phosphatase 2, regulatory subunit B', delta6Rare Single Gene Mutation, Syndromic, Functional1S8.533
PPP3CAprotein phosphatase 3 catalytic subunit alpha4Rare Single Gene Mutation, Syndromic3S13
PPP5Cprotein phosphatase 5 catalytic subunit19Rare Single Gene Mutation113
PREX1Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 120Rare Single Gene Mutation, Genetic Association26
PRICKLE1Prickle homolog 1 (Drosophila)12Rare Single Gene Mutation, Syndromic, Functional27
PRICKLE2prickle planar cell polarity protein 23Rare Single Gene Mutation, Functional28
PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta7Rare Single Gene Mutation, Syndromic27
PRKCAprotein kinase C alpha17Rare Single Gene Mutation, Functional27
PRKCBprotein kinase C beta16Rare Single Gene Mutation, Genetic Association28
PRKD1Protein kinase D114Rare Single Gene Mutation, SyndromicS7
PRKD2protein kinase D219Rare Single Gene Mutation24
PRKDCprotein kinase, DNA-activated, catalytic polypeptide8Rare Single Gene Mutation, Syndromic, Functional29
PRKNparkin RBR E3 ubiquitin protein ligase6Rare Single Gene Mutation, Genetic Association, Functional220
PRODHProline dehydrogenase (oxidase) 122Rare Single Gene Mutation, Syndromic, Genetic Association2S8
PRPF19pre-mRNA processing factor 1911Rare Single Gene Mutation33
PRPF39pre-mRNA processing factor 3914Rare Single Gene Mutation23
PRPF8pre-mRNA processing factor 817Rare Single Gene Mutation, Syndromic3S9
PRR12proline rich 1219Rare Single Gene Mutation, Syndromic1S7
PRR14Lproline rich 14 like22Rare Single Gene Mutation15
PRR25proline rich 2516Rare Single Gene Mutation32
PRUNE2prune homolog 29Rare Single Gene Mutation, Syndromic212
PSD3pleckstrin and Sec7 domain containing 38Rare Single Gene Mutation, Genetic Association27
PSMD11proteasome 26S subunit, non-ATPase 1117Rare Single Gene Mutation12
PSMD12proteasome 26S subunit, non-ATPase 1217Rare Single Gene Mutation, Syndromic1S65
PSMD6proteasome 26S subunit, non-ATPase 63Rare Single Gene Mutation13
PTBP2polypyrimidine tract binding protein 21Rare Single Gene Mutation, Genetic Association, Functional28
PTCHD1patched domain containing 1XRare Single Gene Mutation, Genetic Association, Functional122
PTCHD1-ASPTCHD1antisense RNA (head to head)XRare Single Gene Mutation217.63
PTDSS1phosphatidylserine synthase 18Rare Single Gene Mutation, Syndromic36
PTENphosphatase and tensin homolog (mutated in multiple advanced cancers 1)10Rare Single Gene Mutation, Syndromic, Functional1S63.15100
PTGS2prostaglandin-endoperoxide synthase 21Rare Single Gene Mutation, Genetic Association, Functional28
PTK7Protein tyrosine kinase 7 (inactive)6Rare Single Gene Mutation18
PTPN11protein tyrosine phosphatase, non-receptor type 1112Rare Single Gene Mutation, Syndromic, Functional1S27
PTPN4protein tyrosine phosphatase non-receptor type 42Rare Single Gene Mutation, SyndromicS5
PTPRBprotein tyrosine phosphatase, receptor type B12Rare Single Gene Mutation, Genetic Association26
PTPRCprotein tyrosine phosphatase, receptor type, C1Rare Single Gene Mutation, Genetic Association211
PTPRTprotein tyrosine phosphatase, receptor type, T20Rare Single Gene Mutation, Functional211
PXDNperoxidasin2Rare Single Gene Mutation, Syndromic28
PYHIN1Pyrin and HIN domain family, member 11Rare Single Gene Mutation24
QRICH1glutamine rich 13Rare Single Gene Mutation, Syndromic214
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, Functional219
RAB43RAB43, member RAS oncogene family3Rare Single Gene Mutation22
RAC1Rac family small GTPase 17Rare Single Gene Mutation, Syndromic, FunctionalS10
RAD21RAD21cohesin complex component8Rare Single Gene Mutation, SyndromicS7
RAD21L1RAD21 cohesin complex component like 120Rare Single Gene Mutation23
RAI1retinoic acid induced 117Rare Single Gene Mutation, Syndromic, Functional1S12.2536
PON1paraoxonase 17Genetic Association25
RALARAS like proto-oncogene A7Rare Single Gene Mutation, SyndromicS6
RALGAPBRal GTPase activating protein non-catalytic beta subunit20Rare Single Gene Mutation16
RANBP17RAN binding protein 175Rare Single Gene Mutation29
RAPGEF4Rap guanine nucleotide exchange factor (GEF) 42Rare Single Gene Mutation218
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 Association, Functional244
RBM27RNA binding motif protein 275Rare Single Gene Mutation24
REEP3receptor accessory protein 310Rare Single Gene Mutation23
RELNReelin7Rare Single Gene Mutation, Syndromic, Genetic Association, Functional17.265
REREArginine-glutamic acid dipeptide (RE) repeats1Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S6.517
RFX3regulatory factor X39Rare Single Gene Mutation, Syndromic115.9511
RFX4regulatory factor X412Rare Single Gene Mutation, Syndromic3S2
RFX7regulatory factor X715Rare Single Gene Mutation, Syndromic3S4
RGS7regulator of G-protein signaling 71Rare Single Gene Mutation26
RHEBRas homolog, mTORC1 binding7Rare Single Gene Mutation, Syndromic, FunctionalS3
RIMS1Regulating synaptic membrane exocytosis 16Rare Single Gene Mutation, Genetic Association111.3511
RIMS2regulating synaptic membrane exocytosis 28Rare Single Gene Mutation, Syndromic, Genetic Association3S6
RIMS3regulating synaptic membrane exocytosis 31Rare Single Gene Mutation24
RLIMRing finger protein, LIM domain interactingXRare Single Gene Mutation, SyndromicS6
RNF135Ring finger protein 13517Rare Single Gene Mutation, Syndromic, Genetic Association2S5
RNF25ring finger protein 252Rare Single Gene Mutation23
RNF38ring finger protein 389Rare Single Gene Mutation22
ROBO2roundabout guidance receptor 23Rare Single Gene Mutation, Genetic Association, Functional210
RORARAR-related orphan receptor A15Rare Single Gene Mutation, Syndromic, Genetic Association, FunctionalS25
RORBRAR related orphan receptor B9Rare Single Gene Mutation, Syndromic, Functional1S8.2515
RPH3Arabphilin 3A12Rare Single Gene Mutation, Functional37
RPL10ribosomal protein L10XRare Single Gene Mutation, Syndromic214
RPS6KA2ribosomal protein S6 kinase, 90kDa, polypeptide 26Rare Single Gene Mutation25
RPS6KA3Ribosomal protein S6 kinase, 90kDa, polypeptide 3XRare Single Gene Mutation, Syndromic2S19
RSRC1arginine and serine rich coiled-coil 13Syndromic, Genetic AssociationS7
RUNX1T1RUNX1 partner transcriptional co-repressor 18Rare Single Gene Mutation13
SACSsacsin molecular chaperone13Rare Single Gene Mutation27
SAE1SUMO1 activating enzyme subunit 119Rare Single Gene Mutation24
SAMD11sterile alpha motif domain containing 111Rare Single Gene Mutation24
SASH1SAM and SH3 domain containing 16Rare Single Gene Mutation24
SATB1SATB homeobox 13Rare Single Gene Mutation, Syndromic1S2.54
RP11-1407O15.217Rare Single Gene Mutation21
SATB2SATB homeobox 22Rare Single Gene Mutation, Syndromic, Genetic Association, Functional2S24.9545
SBF1SET binding factor 122Rare Single Gene Mutation211
SCAF1SR-related CTD associated factor 119Rare Single Gene Mutation24
SCAF4SR-related CTD associated factor 421Rare Single Gene Mutation, Syndromic2S6
SCFD2sec1 family domain containing 24Rare Single Gene Mutation24
SCGNsecretagogin, EF-hand calcium binding protein6Rare Single Gene Mutation, Functional34
SCN1Asodium channel, voltage-gated, type I, alpha subunit2Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S99
SCN2Asodium channel, voltage-gated, type II, alpha subunit2Rare Single Gene Mutation, Syndromic, Functional1109.3126
RHOXF1Rhox homeobox family, member 1XGenetic Association23
RIT2Ras-like without CAAX 218Genetic Association23
SCN4ASodium channel, voltage gated, type IV alpha subunit17Rare Single Gene Mutation26
SCN8Asodium channel, voltage gated, type VIII, alpha subunit12Rare Single Gene Mutation, Syndromic, Functional161
SCN9Asodium voltage-gated channel alpha subunit 92Rare Single Gene Mutation210
SCP2sterol carrier protein 21Rare Single Gene Mutation23
RPS10P2-AS1ribosomal protein S10 pseudogene 2 anti-sense 120Genetic Association, Functional24
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, Functional220
SENP1SUMO specific peptidase 112Rare Single Gene Mutation33
SERPINE1serpin family E member 17Genetic Association22
SETSETnuclear proto-oncogene9Rare Single Gene Mutation26
SETBP1SET binding protein 118Rare Single Gene Mutation, Syndromic, Functional132
SETD1ASET domain containing 1A, histone lysine methyltransferase16Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S4.3511
SETD1BSET domain containing 1B12Rare Single Gene Mutation, Syndromic, Functional2S20
SETD2SET domain containing 23Rare Single Gene Mutation, Syndromic126
SETD5SET domain containing 53Rare Single Gene Mutation, Syndromic, Functional1S28.0540
SETDB1SET domain, bifurcated 11Rare Single Gene Mutation25
SETDB2SET domain, bifurcated 213Rare Single Gene Mutation, Syndromic23
SEZ6L2SEZ6L2 seizure related 6 homolog (mouse)-like 216Rare Single Gene Mutation, Genetic Association27
SF3B1splicing factor 3b subunit 12Rare Single Gene Mutation26
SGSHN-sulfoglucosamine sulfohydrolase17Rare Single Gene Mutation, SyndromicS8
SGSM3Small G protein signaling modulator 322Rare Single Gene Mutation, Syndromic28
SENP6SUMO specific peptidase 66Rare Single Gene Mutation34
SH3RF1SH3 domain containing ring finger 14Rare Single Gene Mutation, Functional35
SH3RF3SH3 domain containing ring finger 32Rare Single Gene Mutation23
SHANK1SH3 and multiple ankyrin repeat domains 119Rare Single Gene Mutation, Genetic Association214.6516
SHANK2SH3 and multiple ankyrin repeat domains 211Rare Single Gene Mutation, Syndromic, Genetic Association, Functional118.5554
SHANK3SH3 and multiple ankyrin repeat domains 322Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S74.85154
SHOXshort stature homeoboxX,YRare Single Gene Mutation23
SIK1Salt-inducible kinase 121Rare Single Gene Mutation, Syndromic, FunctionalS8
SIN3ASIN3 transcription regulator family member A15Rare Single Gene Mutation, Syndromic1S17
SIN3BSIN3 transcription regulator family member B19Rare Single Gene Mutation, Syndromic2S6
SKISKIproto-oncogene1Rare Single Gene Mutation14.257
SLC12A5Solute carrier family 12 (potassium/chloride transporter), member 520Rare Single Gene Mutation, Functional29
SLC1A1solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 19Rare Single Gene Mutation, Genetic Association214
SLC1A2Solute carrier family 1 (glial high affinity glutamate transporter), member 211Rare Single Gene Mutation, Genetic Association, Functional310
SLC22A9solute carrier family 22 member 911Rare Single Gene Mutation26
SLC23A1solute carrier family 23 member 15Rare Single Gene Mutation35
SLC24A2solute carrier family 24 member 29Rare Single Gene Mutation24
SLC25A12solute carrier family 25 (mitochondrial carrier, Aralar), member 122Rare Single Gene Mutation, Syndromic, Genetic Association, Functional226
SLC25A39solute carrier family 25 member 3917Rare Single Gene Mutation23
SLC27A4Solute carrier family 27 (fatty acid transporter), member 49Rare Single Gene Mutation, Syndromic23
SLC29A4solute carrier family 29 member 47Rare Single Gene Mutation22
SLC35G1solute carrier family 35 member G110Rare Single Gene Mutation24
SLC38A10solute carrier family 38, member 1017Rare Single Gene Mutation23
SLC45A1solute carrier family 45 member 11Rare Single Gene Mutation, SyndromicS6
SLC4A10solute carrier family 4, sodium bicarbonate transporter-like, member 102Rare Single Gene Mutation, Syndromic, Genetic Association210
SLC6A1Solute carrier family 6 (neurotransmitter transporter), member 13Rare Single Gene Mutation, Syndromic, Genetic Association1S31.1555
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, Functional231
SLC6A8solute carrier family 6 (neurotransmitter transporter, creatine), member 8XRare Single Gene Mutation, Syndromic, Functional225
SLC7A3Solute carrier family 7 (cationic amino acid transporter, y+ system), member 3XRare Single Gene Mutation22
SLC7A5solute carrier family 7 member 516Rare Single Gene Mutation, Functional26
SLC7A7solute carrier family 7 member 714Rare Single Gene Mutation26
SLC9A6solute carrier family 9 (sodium/hydrogen exchanger), member 6XRare Single Gene Mutation, Syndromic, Functional1S22
SLC9A9solute carrier family 9 (sodium/hydrogen exchanger), member 93Rare Single Gene Mutation, Genetic Association, Functional217
SLCO1B3Solute carrier organic anion transporter family, member 1B312Rare Single Gene Mutation26
SLFN5schlafen family member 517Rare Single Gene Mutation34
SLITRK2SLIT and NTRK like family member 2XRare Single Gene Mutation, Syndromic, FunctionalS8
SLITRK5SLIT and NTRK like family member 513Rare Single Gene Mutation, Functional210
SMAD4SMAD family member 418Rare Single Gene Mutation, Syndromic, Functional211
SMARCA2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 29Rare Single Gene Mutation, Syndromic, Genetic Association1S29
SMARCA4SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 419Rare Single Gene Mutation, Syndromic, Functional123
SMARCC2SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 212Rare Single Gene Mutation, Syndromic, Functional1S1019
SMC1Astructural maintenance of chromosomes 1AXRare Single Gene Mutation, SyndromicS18
SMC3structural maintenance of chromosomes 310Rare Single Gene Mutation, Syndromic2S14
SMG6SMG6, nonsense mediated mRNA decay factor17Rare Single Gene Mutation24
SMURF1SMAD specific E3 ubiquitin protein ligase 17Rare Single Gene Mutation22
SNAP25Synaptosomal-associated protein, 25kDa20Rare Single Gene Mutation, Genetic Association210
SNCAIPsynuclein alpha interacting protein5Rare Single Gene Mutation33
SND1staphylococcal nuclease and tudor domain containing 17Rare Single Gene Mutation, Genetic Association210
SNTG2syntrophin gamma 22Rare Single Gene Mutation27
SNX14Sorting nexin 146Rare Single Gene Mutation, SyndromicS10
SNX5sorting nexin 520Rare Single Gene Mutation25
SOD1superoxide dismutase 121Rare Single Gene Mutation, Genetic Association, Functional23
SONSONDNA binding protein21Rare Single Gene Mutation, Syndromic, Functional1S1124
SORCS3sortilin related VPS10 domain containing receptor 310Rare Single Gene Mutation, Syndromic, Genetic Association26
SOS2SOS Ras/Rho guanine nucleotide exchange factor 214Rare Single Gene Mutation, Syndromic16
SOX5SRY-box 512Rare Single Gene Mutation, Syndromic, Genetic Association1S17.622
SOX6SRY-box transcription factor 611Rare Single Gene Mutation, SyndromicS3
SPARCL1SPARC like 14Rare Single Gene Mutation, Functional25
SPASTSpastin2Rare Single Gene Mutation, Syndromic18.117
SPENspenfamily transcriptional repressor1Rare Single Gene Mutation, Syndromic216
SLC22A15Solute carrier family 22, member 151Genetic Association21
SLC25A27solute carrier family 25 member 276Genetic Association21
SLC35B1solute carrier family 35 member B117Genetic Association21
SPP2secreted phosphoprotein 22Rare Single Gene Mutation24
SPRY2sprouty RTK signaling antagonist 213Rare Single Gene Mutation, Functional23
SPTBN1spectrin beta, non-erythrocytic 12Rare Single Gene Mutation, Syndromic2S11
SRCAPSnf2 related CREBBP activator protein16Rare Single Gene Mutation, Syndromic114
SRGAP3SLIT-ROBO Rho GTPase activating protein 33Rare Single Gene Mutation26
SRPRASRP receptor subunit alpha11Rare Single Gene Mutation14.753
SRRM2serine/arginine repetitive matrix 216Rare Single Gene Mutation, Syndromic2S13
SRSF1serine and arginine rich splicing factor 117Rare Single Gene Mutation, Syndromic3S4
SRSF11serine and arginine rich splicing factor 111Rare Single Gene Mutation26
SSRP1structure specific recognition protein 111Rare Single Gene Mutation23
ST7suppression of tumorigenicity 77Rare Single Gene Mutation24
ST8SIA2ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 215Rare Single Gene Mutation, Genetic Association, Functional212
STAG1stromal antigen 13Rare Single Gene Mutation, SyndromicS10
STX1ASyntaxin 1A (brain)7Rare Single Gene Mutation, Genetic Association27
STXBP1Syntaxin binding protein 19Rare Single Gene Mutation, Syndromic, Functional1S19.175
STXBP5Syntaxin binding protein 5 (tomosyn)6Rare Single Gene Mutation27
STYK1Serine/threonine/tyrosine kinase 112Rare Single Gene Mutation, Genetic Association24
SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit14Rare Single Gene Mutation, Syndromic2S8
SYAP1Synapse associated protein 1XRare Single Gene Mutation22
SYBUsyntabulin8Rare Single Gene Mutation31
SYCE1synaptonemal complex central element protein 110Rare Single Gene Mutation33
SYN1Synapsin 1XRare Single Gene Mutation, Functional12.3528
SYN2Synapsin II3Rare Single Gene Mutation, Genetic Association, Functional27
SYNCRIPsynaptotagmin binding cytoplasmic RNA interacting protein6Rare Single Gene Mutation, Syndromic210
SYNE1spectrin repeat containing, nuclear envelope 16Rare Single Gene Mutation, Genetic Association223
SYNGAP1synaptic Ras GTPase activating protein 16Rare Single Gene Mutation, Syndromic, Functional1S40.75101
SYNJ1synaptojanin 121Rare Single Gene Mutation23
SYPsynaptophysinXRare Single Gene Mutation34
SYT1synaptotagmin 112Rare Single Gene Mutation, SyndromicS11
TAF1TATA-box binding protein associated factor 1XRare Single Gene Mutation, SyndromicS17
TAF1CTATA-box binding protein associated factor, RNA polymerase I subunit C16Rare Single Gene Mutation, Genetic Association23
TAF4TATA-box binding protein associated factor 420Rare Single Gene Mutation, Syndromic2S5
TAF6TATA-box binding protein associated factor 67Rare Single Gene Mutation27
TANC2etratricopeptide repeat, ankyrin repeat and coiled-coil containing 217Rare Single Gene Mutation, Syndromic, Functional1S24.9516
TAOK1TAO kinase 117Rare Single Gene Mutation, Syndromic, Functional1S13
TAOK2TAO kinase 216Rare Single Gene Mutation, Functional28
TBC1D23TBC1 domain family member 233Rare Single Gene Mutation, SyndromicS6
TBC1D31TBC1 domain family, member 318Rare Single Gene Mutation27
TBC1D5TBC1 domain family, member 53Rare Single Gene Mutation, Genetic Association210
TBCELtubulin folding cofactor E like11Rare Single Gene Mutation13
TBCKTBC1 domain containing kinase4Rare Single Gene Mutation, Syndromic1S15
TBL1XR1transducin beta like 1 X-linked receptor 13Rare Single Gene Mutation, Syndromic, Functional19.1534
TBR1T-box, brain, 12Rare Single Gene Mutation, Syndromic, Genetic Association, Functional143
TBX1T-box 122Rare Single Gene Mutation, Syndromic, FunctionalS7
TBX22T-box transcription factor 22XRare Single Gene Mutation32
TCEAL1transcription elongation factor A like 1XRare Single Gene Mutation, Syndromic3S4
TCF20Transcription factor 20 (AR1)22Rare Single Gene Mutation, Syndromic, Functional1S3827
TCF4Transcription factor 418Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S13.573
TCF7L2Transcription factor 7-like 2 (T-cell specific, HMG-box)10Rare Single Gene Mutation, Syndromic, Functional12.113
TECTAtectorin alpha11Rare Single Gene Mutation29
TEKTEKreceptortyrosine kinase9Rare Single Gene Mutation123
TERB2telomere repeat binding bouquet formation protein 215Rare Single Gene Mutation21
TERF2Telomeric repeat binding factor 216Rare Single Gene Mutation, Functional28
TET2Tet methylcytosine dioxygenase 24Rare Single Gene Mutation, Functional27
TET3tet methylcytosine dioxygenase 32Rare Single Gene Mutation, SyndromicS7
TFB2Mtranscription factor B2, mitochondrial1Rare Single Gene Mutation31
TFE3transcription factor binding to IGHM enhancer 3XRare Single Gene Mutation, SyndromicS5
TGM1transglutaminase 114Rare Single Gene Mutation33
THBS1Thrombospondin 115Rare Single Gene Mutation, Genetic Association25
THRAthyroid hormone receptor alpha17Rare Single Gene Mutation, Functional25
TLE3TLE family member 3, transcriptional corepressor15Rare Single Gene Mutation15
TLK2tousled-like kinase 217Rare Single Gene Mutation, Syndromic1S13.522
TM4SF19transmembrane 4 L six family member 193Rare Single Gene Mutation24
STK39serine threonine kinase 39 (STE20/SPS1 homolog, yeast)2Genetic Association25
SYT17synaptotagmin XVII16Genetic Association22
TBL1Xtransducin (beta)-like 1X-linkedXGenetic Association21
TDO2tryptophan 2,3-dioxygenase4Genetic Association24
TM4SF20Transmembrane 4 L six family member 202Rare Single Gene Mutation, SyndromicS4
TM9SF4transmembrane 9 superfamily member 420Rare Single Gene Mutation10.55
TMEM134transmembrane protein 13411Rare Single Gene Mutation33
TMEM39Btransmembrane protein 39B1Rare Single Gene Mutation25
TMLHEtrimethyllysine hydroxylase, epsilonXRare Single Gene Mutation, Genetic Association, Functional210
TNPO3transportin 37Rare Single Gene Mutation38
TNRC6BTrinucleotide repeat containing 6B22Rare Single Gene Mutation, Syndromic219
TNRC6Ctrinucleotide repeat containing adaptor 6C17Rare Single Gene Mutation26
TNS2tensin 212Rare Single Gene Mutation34
TOP2BDNA topoisomerase II beta3Rare Single Gene Mutation, Functional27
TOP3BTopoisomerase (DNA) III beta22Rare Single Gene Mutation, Genetic Association, Functional27
TPOThyroid peroxidase2Genetic Association21
TRAF7TNF receptor associated factor 716Rare Single Gene Mutation, Syndromic1S3.510
TRAPPC2Ltrafficking protein particle complex 2 like16Rare Single Gene Mutation, Syndromic34
TRAPPC6Btrafficking protein particle complex 6B14Rare Single Gene Mutation, SyndromicS9
TRAPPC9trafficking protein particle complex 98Rare Single Gene Mutation, Syndromic, Functional225
TRIM23tripartite motif containing 235Rare Single Gene Mutation18
TRIM32tripartite motif containing 329Rare Single Gene Mutation, Functional35
TRIM33Tripartite motif containing 331Rare Single Gene Mutation, Genetic Association22
TRIM8tripartite motif containing 810Rare Single Gene Mutation, Syndromic3S5
TRIOTrio Rho guanine nucleotide exchange factor5Rare Single Gene Mutation, Syndromic, Functional144
TRIP12Thyroid hormone receptor interactor 122Rare Single Gene Mutation, Syndromic1S2738
TRPC5transient receptor potential cation channel subfamily C member 5XRare Single Gene Mutation37
TRPC6Transient receptor potential cation channel, subfamily C, member 611Rare Single Gene Mutation, Functional27.26
TRPM1transient receptor potential cation channel subfamily M member 115Rare Single Gene Mutation26
TRPM3transient receptor potential cation channel subfamily M member 39Rare Single Gene Mutation, SyndromicS14
TRPM6transient receptor potential cation channel subfamily M member 69Rare Single Gene Mutation36
TRRAPtransformation/transcription domain associated protein7Rare Single Gene Mutation, Syndromic, Functional2S14
TSC1tuberous sclerosis 19Rare Single Gene Mutation, Syndromic, Functional1S17.137
TSC2tuberous sclerosis 216Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S56
TSHZ1teashirt zinc finger homeobox 118Rare Single Gene Mutation, Syndromic16
TSHZ3teashirt zinc finger homeobox 319Rare Single Gene Mutation, Functional15
TSPAN17tetraspanin 175Rare Single Gene Mutation24
TSPAN4tetraspanin 411Rare Single Gene Mutation25
TSPAN7tetraspanin 7XRare Single Gene Mutation, Functional29
TSPOAP1TSPO associated protein 117Rare Single Gene Mutation27
TTI2TELO2 interacting protein 28Rare Single Gene Mutation, SyndromicS3
TTNtitin2Rare Single Gene Mutation, Syndromic2S33
TUBGCP5tubulin, gamma complex associated protein 515Rare Single Gene Mutation26
U2AF2U2 small nuclear RNA auxiliary factor 219Rare Single Gene Mutation, Syndromic37
UBAP2Lubiquitin associated protein 2 like1Rare Single Gene Mutation, Syndromic15
UBE3Aubiquitin protein ligase E3A15Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S45
UBE3CUbiquitin protein ligase E3C7Rare Single Gene Mutation, Syndromic26
TRPC4transient receptor potential cation channel subfamily C member 413Rare Single Gene Mutation, Genetic Association, Functional35
UBE2Hubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)7Genetic Association22
UBN2ubinuclein 27Rare Single Gene Mutation25
UBR1ubiquitin protein ligase E3 component n-recognin 115Rare Single Gene Mutation11.63
UBR5ubiquitin protein ligase E3 component n-recognin 58Rare Single Gene Mutation211
UIMC1ubiquitin interaction motif containing 15Rare Single Gene Mutation26
UNC13Aunc-13 homolog A19Rare Single Gene Mutation, Syndromic2S10
UNC5Dunc-5 netrin receptor D8Rare Single Gene Mutation35
UNC79unc-79 homolog, NALCN channel complex subunit14Rare Single Gene Mutation, Functional29
UNC80unc-80 homolog, NALCN activator2Rare Single Gene Mutation212
UPF2UPF2, regulator of nonsense mediated mRNA decay10Rare Single Gene Mutation, Functional210
UPF3BUPF3B, regulator of nonsense mediated mRNA decayXRare Single Gene Mutation, Syndromic1S18
USH2Ausherin1Rare Single Gene Mutation210
USP15ubiquitin specific peptidase 1512Rare Single Gene Mutation24
USP30ubiquitin specific peptidase 3012Rare Single Gene Mutation33
USP45Ubiquitin specific peptidase 456Rare Single Gene Mutation26
USP7Ubiquitin specific peptidase 7 (herpes virus-associated)16Rare Single Gene Mutation, Syndromic, Functional2S15
USP9Xubiquitin specific peptidase 9 X-linkedXRare Single Gene Mutation, Syndromic, Functional1S17
USP9Yubiquitin specific peptidase 9, Y-linkedYRare Single Gene Mutation, Genetic Association22
VAMP2vesicle associated membrane protein 217Rare Single Gene Mutation, SyndromicS4
VASH1vasohibin 114Genetic Association24
VCPvalosin containing protein9Rare Single Gene Mutation, Functional34
VDRvitamin D receptor12Genetic Association, Functional210
VEZF1vascular endothelial zinc finger 117Rare Single Gene Mutation10.53
VIL1Villin 12Rare Single Gene Mutation24
VPS13Bvacuolar protein sorting 13 homolog B (yeast)8Rare Single Gene Mutation, Syndromic, Genetic Association, Functional1S6.3529
VPS54VPS54subunit of GARP complex2Rare Single Gene Mutation33
VSIG4V-set and immunoglobulin domain containing 4XRare Single Gene Mutation23
VWA7von Willebrand factor A domain containing 76Rare Single Gene Mutation33
WACWW domain containing adaptor with coiled-coil10Rare Single Gene Mutation, Syndromic1S1530
WASF1WAS protein family member 16Rare Single Gene Mutation, SyndromicS4
WDFY3WD repeat and FYVE domain containing 34Rare Single Gene Mutation, Syndromic, Functional117.224
USP27Xubiquitin specific peptidase 27 X-linkedXRare Single Gene Mutation36
WDFY4WDFY family member 410Rare Single Gene Mutation211
WDR26WD repeat domain 261Rare Single Gene Mutation, SyndromicS10
WDR37WD repeat domain 3710Rare Single Gene Mutation, Syndromic36
WDR5WD repeat domain 59Rare Single Gene Mutation, SyndromicS3
WNK3WNK lysine deficient protein kinase 3XRare Single Gene Mutation27
WNT1Wingless-type MMTV integration site family, member 112Rare Single Gene Mutation, Syndromic, Genetic Association26
WWOXWW domain containing oxidoreductase16Rare Single Gene Mutation, Syndromic215
WWP1WW domain containing E3 ubiquitin protein ligase 18Rare Single Gene Mutation32
XPCxeroderma pigmentosum, complementation group C3Rare Single Gene Mutation, SyndromicS12
XPO1exportin 12Rare Single Gene Mutation, Genetic Association28
XRCC6X-ray repair cross complementing 622Rare Single Gene Mutation32
YEATS2YEATS domain containing 23Rare Single Gene Mutation, Genetic Association24
YTHDC2YTH domain containing 25Rare Single Gene Mutation, Genetic Association27
YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon17Rare Single Gene Mutation25
YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma7Rare Single Gene Mutation, Syndromic3S13
YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta8Rare Single Gene Mutation, Syndromic, Genetic Association, Functional316
YY1YY1transcription factor14Rare Single Gene Mutation, Syndromic, Functional1S9
ZBTB16Zinc finger and BTB domain containing 1611Rare Single Gene Mutation, Genetic Association, Functional23
ZBTB18zinc finger and BTB domain containing 181Rare Single Gene Mutation, SyndromicS13
ZBTB20Zinc finger and BTB domain containing 203Rare Single Gene Mutation, Syndromic1S31
ZBTB21zinc finger and BTB domain containing 2121Rare Single Gene Mutation14
ZBTB47zinc finger and BTB domain containing 473Rare Single Gene Mutation31
ZBTB7Azinc finger and BTB domain containing 7A19Rare Single Gene Mutation, SyndromicS2
ZC3H11Azinc finger CCCH-type containing 11A1Rare Single Gene Mutation24
ZC3H4zinc finger CCCH-type containing 419Rare Single Gene Mutation26
ZFYVE26zinc finger FYVE-type containing 2614Rare Single Gene Mutation27
ZMIZ1zinc finger MIZ-type containing 110Rare Single Gene Mutation, Syndromic2S11
ZMYM2zinc finger MYM-type containing 213Rare Single Gene Mutation, Syndromic2S10
ZMYM3zinc finger MYM-type containing 3XRare Single Gene Mutation, Syndromic, Genetic AssociationS8
ZMYND11Zinc finger, MYND-type containing 1110Rare Single Gene Mutation, Syndromic214
ZMYND8zinc finger MYND-type containing 820Rare Single Gene Mutation, Syndromic1S4.58
ZNF18zinc finger protein 1817Rare Single Gene Mutation22
ZNF292zinc finger protein 2926Rare Single Gene Mutation, Syndromic1S12
ZNF385BZinc finger protein 385B2Rare Single Gene Mutation, Genetic Association23
ZNF462Zinc finger protein 4629Rare Single Gene Mutation, Syndromic, Functional1S10.613
ZNF517Zinc finger protein 5178Rare Single Gene Mutation25
ZNF548zinc finger protein 54819Rare Single Gene Mutation24
ZFHX3zinc finger homeobox 316Rare Single Gene Mutation, Syndromic3S12
ZFXzinc finger protein X-linkedXRare Single Gene Mutation, Syndromic3S4
ZNF559Zinc finger protein 55919Rare Single Gene Mutation29
ZNF626zinc finger protein 62619Rare Single Gene Mutation24
ZNF711zinc finger protein 711XRare Single Gene Mutation25
ZNF713Zinc finger protein 7137Rare Single Gene Mutation23
ZNF774Zinc finger protein 77415Rare Single Gene Mutation24
ZNF804AZinc finger protein 804A2Rare Single Gene Mutation, Genetic Association, Functional216
ZNF827Zinc finger protein 8274Rare Single Gene Mutation, Genetic Association23
ZSWIM6zinc finger SWIM-type containing 65Rare Single Gene Mutation, Syndromic, Genetic AssociationS6
ZWILCHzwilchkinetochore protein15Rare Single Gene Mutation25
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