skin disease Gene Set

Dataset GWASdb SNP-Disease Associations
Category disease or phenotype associations
Type disease
Description An integumentary system disease that is located_in skin. (Human Disease Ontology, DOID_37)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/DOID:37
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Genes

281 genes associated with the disease skin disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

Symbol Name Standardized Value
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 3.37096
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) 3.01904
AFG3L1P AFG3-like AAA ATPase 1, pseudogene 2.92149
ZNF276 zinc finger protein 276 2.70186
DPEP1 dipeptidase 1 (renal) 2.69014
SPATA33 spermatogenesis associated 33 2.65164
OCA2 oculocutaneous albinism II 2.62727
SPIRE2 spire-type actin nucleation factor 2 2.54719
FANCA Fanconi anemia, complementation group A 2.47891
CTXN2 cortexin 2 2.44571
CDK10 cyclin-dependent kinase 10 2.44342
CHMP1A charged multivesicular body protein 1A 2.39406
PRDM7 PR domain containing 7 2.34889
DBNDD1 dysbindin (dystrobrevin binding protein 1) domain containing 1 2.19794
ANKRD11 ankyrin repeat domain 11 2.17986
IRF4 interferon regulatory factor 4 2.09814
DUT deoxyuridine triphosphatase 2.07415
TYR tyrosinase 2.04175
CPNE7 copine VII 2.02516
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1 1.98504
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 1.95812
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive) 1.9348
GAS8 growth arrest-specific 8 1.82794
CENPBD1 CENPB DNA-binding domains containing 1 1.77567
SHC4 SHC (Src homology 2 domain containing) family, member 4 1.75948
SPATA2L spermatogenesis associated 2-like 1.75142
SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 1.69584
ZNF778 zinc finger protein 778 1.6161
HCG9 HLA complex group 9 (non-protein coding) 1.60283
TRIM31 tripartite motif containing 31 1.56776
CEP152 centrosomal protein 152kDa 1.54733
SLC45A2 solute carrier family 45, member 2 1.54533
TCF25 transcription factor 25 (basic helix-loop-helix) 1.52332
ATP8B4 ATPase, class I, type 8B, member 4 1.51309
PIGU phosphatidylinositol glycan anchor biosynthesis, class U 1.46368
NCOA6 nuclear receptor coactivator 6 1.45857
GRM5 glutamate receptor, metabotropic 5 1.45471
TRIM15 tripartite motif containing 15 1.45047
TPCN2 two pore segment channel 2 1.43844
SEMA6D sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 1.43827
EIF6 eukaryotic translation initiation factor 6 1.40417
ACSF3 acyl-CoA synthetase family member 3 1.32438
HLA-A major histocompatibility complex, class I, A 1.31635
FHIT fragile histidine triad 1.21996
ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif, 20 1.19386
DACH1 dachshund family transcription factor 1 1.14463
ADIPOR2 adiponectin receptor 2 1.10764
PRDM15 PR domain containing 15 1.10764
PPARGC1B peroxisome proliferator-activated receptor gamma, coactivator 1 beta 1.07599
NELL1 NEL-like 1 (chicken) 1.04846
NTM neurotrimin 1.02476
ZNF521 zinc finger protein 521 1.02476
TNXB tenascin XB 0.94859
TRAP1 TNF receptor-associated protein 1 0.947208
CASC2 cancer susceptibility candidate 2 (non-protein coding) 0.932777
NAV2 neuron navigator 2 0.907073
FBN1 fibrillin 1 0.882764
M6PR mannose-6-phosphate receptor (cation dependent) 0.88034
ZNF18 zinc finger protein 18 0.88034
DLGAP1 discs, large (Drosophila) homolog-associated protein 1 0.764084
NOTCH4 notch 4 0.608608
C2 complement component 2 0.540352
MUC22 mucin 22 0.535968
C6ORF10 chromosome 6 open reading frame 10 0.528116
IL13 interleukin 13 0.510604
HLA-C major histocompatibility complex, class I, C 0.489963
CCHCR1 coiled-coil alpha-helical rod protein 1 0.485506
ZNF365 zinc finger protein 365 0.477376
HCP5 HLA complex P5 (non-protein coding) 0.473064
IL12B interleukin 12B 0.472266
TNF tumor necrosis factor 0.471783
ABHD16A abhydrolase domain containing 16A 0.460603
LST1 leukocyte specific transcript 1 0.450717
PSORS1C1 psoriasis susceptibility 1 candidate 1 0.444508
GLB1 galactosidase, beta 1 0.44034
REV3L REV3-like, polymerase (DNA directed), zeta, catalytic subunit 0.432757
HLA-DOB major histocompatibility complex, class II, DO beta 0.424014
KCNH7 potassium channel, voltage gated eag related subfamily H, member 7 0.415585
LOC285626 uncharacterized LOC285626 0.415175
MUC21 mucin 21, cell surface associated 0.413582
RNF5 ring finger protein 5, E3 ubiquitin protein ligase 0.412872
TRAF3IP2 TRAF3 interacting protein 2 0.403279
BTNL2 butyrophilin-like 2 0.403142
RAD50 RAD50 homolog (S. cerevisiae) 0.388075
TRIM40 tripartite motif containing 40 0.38028
DDX39B DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B 0.371601
ZMIZ1 zinc finger, MIZ-type containing 1 0.368328
DDR1 discoidin domain receptor tyrosine kinase 1 0.366846
CSMD1 CUB and Sushi multiple domains 1 0.363769
TCF19 transcription factor 19 0.358594
DPCR1 diffuse panbronchiolitis critical region 1 0.353729
MCCD1 mitochondrial coiled-coil domain 1 0.349897
STK19 serine/threonine kinase 19 0.344234
ATP6V1G2-DDX39B ATP6V1G2-DDX39B readthrough (NMD candidate) 0.343265
TNFAIP3 tumor necrosis factor, alpha-induced protein 3 0.34106
HCG22 HLA complex group 22 0.333014
GJB2 gap junction protein, beta 2, 26kDa 0.3317
CAST calpastatin 0.329495
NOS2 nitric oxide synthase 2, inducible 0.32746
TYK2 tyrosine kinase 2 0.32746
MICB MHC class I polypeptide-related sequence B 0.326505
ZNF816-ZNF321P ZNF816-ZNF321P readthrough 0.315573
TCHH trichohyalin 0.309387
FBXL19 F-box and leucine-rich repeat protein 19 0.30207
FBXO40 F-box protein 40 0.301069
STAT2 signal transducer and activator of transcription 2, 113kDa 0.301069
ZC3H12D zinc finger CCCH-type containing 12D 0.288248
STXBP5L syntaxin binding protein 5-like 0.288109
SPATA2 spermatogenesis associated 2 0.278736
KIAA0391 KIAA0391 0.271108
POU5F1 POU class 5 homeobox 1 0.271108
IL23R interleukin 23 receptor 0.266707
RTEL1 regulator of telomere elongation helicase 1 0.266707
SNORD48 small nucleolar RNA, C/D box 48 0.266044
KIF3A kinesin family member 3A 0.263611
TMEM232 transmembrane protein 232 0.262762
PTGER3 prostaglandin E receptor 3 (subtype EP3) 0.253075
HCG26 HLA complex group 26 (non-protein coding) 0.250755
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit 0.249177
NOTCH1 notch 1 0.241058
CRACR2A calcium release activated channel regulator 2A 0.225617
PAK6 p21 protein (Cdc42/Rac)-activated kinase 6 0.221273
NREP neuronal regeneration related protein 0.220763
SLC22A23 solute carrier family 22, member 23 0.219804
RNF114 ring finger protein 114 0.217071
COG6 component of oligomeric golgi complex 6 0.217071
ALDH1A1 aldehyde dehydrogenase 1 family, member A1 0.214801
OAF OAF homolog (Drosophila) 0.213423
ANO2 anoctamin 2, calcium activated chloride channel 0.2105
TFDP1 transcription factor Dp-1 0.210466
THTPA thiamine triphosphatase 0.210021
CAMK2G calcium/calmodulin-dependent protein kinase II gamma 0.209025
NTN4 netrin 4 0.208691
WWOX WW domain containing oxidoreductase 0.208542
LDLRAD3 low density lipoprotein receptor class A domain containing 3 0.208337
LGR4 leucine-rich repeat containing G protein-coupled receptor 4 0.206267
POLR3G polymerase (RNA) III (DNA directed) polypeptide G (32kD) 0.206027
LMO1 LIM domain only 1 (rhombotin 1) 0.205908
ITLN2 intelectin 2 0.20556
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme 0.205289
NCF4 neutrophil cytosolic factor 4, 40kDa 0.203862
CLEC16A C-type lectin domain family 16, member A 0.203862
TSC1 tuberous sclerosis 1 0.203862
ZDHHC23 zinc finger, DHHC-type containing 23 0.20204
PELI1 pellino E3 ubiquitin protein ligase 1 0.20204
MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 0.20184
BCL7C B-cell CLL/lymphoma 7C 0.200885
CAPZB capping protein (actin filament) muscle Z-line, beta 0.200394
HCG23 HLA complex group 23 (non-protein coding) 0.199349
IMPG2 interphotoreceptor matrix proteoglycan 2 0.198536
LOC400655 uncharacterized LOC400655 0.197799
PHF12 PHD finger protein 12 0.19668
ANKRD55 ankyrin repeat domain 55 0.196444
LRRN2 leucine rich repeat neuronal 2 0.194707
ARHGAP31 Rho GTPase activating protein 31 0.194407
ACO1 aconitase 1, soluble 0.193734
SETD1A SET domain containing 1A 0.193275
RALGDS ral guanine nucleotide dissociation stimulator 0.193007
ATF6B activating transcription factor 6 beta 0.192919
FTO fat mass and obesity associated 0.192405
RYR2 ryanodine receptor 2 (cardiac) 0.192156
THRB thyroid hormone receptor, beta 0.191831
EFCAB5 EF-hand calcium binding domain 5 0.191131
MYLK myosin light chain kinase 0.191131
TSPAN18 tetraspanin 18 0.190685
C10ORF128 chromosome 10 open reading frame 128 0.190612
SOX5 SRY (sex determining region Y)-box 5 0.190326
ILF3 interleukin enhancer binding factor 3, 90kDa 0.190115
CGNL1 cingulin-like 1 0.18984
SF3A2 splicing factor 3a, subunit 2, 66kDa 0.189637
LOC646890 axin interactor, dorsalization associated pseudogene 0.189504
KIAA0922 KIAA0922 0.189438
DDX58 DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 0.189373
TVP23A trans-golgi network vesicle protein 23 homolog A (S. cerevisiae) 0.18905
MSH5 mutS homolog 5 0.188368
TMEM100 transmembrane protein 100 0.187837
COL28A1 collagen, type XXVIII, alpha 1 0.187552
MAML2 mastermind-like 2 (Drosophila) 0.187552
IL1R2 interleukin 1 receptor, type II 0.187274
CPNE4 copine IV 0.187055
CD244 CD244 molecule, natural killer cell receptor 2B4 0.186019
CHST8 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 0.185725
INSC inscuteable homolog (Drosophila) 0.185391
ETV6 ets variant 6 0.184929
PCBP1-AS1 PCBP1 antisense RNA 1 0.184793
HSPA1L heat shock 70kDa protein 1-like 0.184267
LOC440040 glutamate receptor, metabotropic 5 pseudogene 0.184097
STXBP6 syntaxin binding protein 6 (amisyn) 0.184012
PRKCQ protein kinase C, theta 0.183887
C15ORF26 chromosome 15 open reading frame 26 0.183763
ESPNP espin pseudogene 0.183763
FAM91A1 family with sequence similarity 91, member A1 0.183681
TGM6 transglutaminase 6 0.183319
RNF103-CHMP3 RNF103-CHMP3 readthrough 0.1832
EXOC2 exocyst complex component 2 0.18289
YPEL1 yippee-like 1 (Drosophila) 0.182403
PPIL2 peptidylprolyl isomerase (cyclophilin)-like 2 0.182112
ELMO1 engulfment and cell motility 1 0.181934
MBNL2 muscleblind-like splicing regulator 2 0.181382
MAPK6 mitogen-activated protein kinase 6 0.181248
ANKRD44 ankyrin repeat domain 44 0.18105
ACCSL 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like 0.180919
CNTNAP5 contactin associated protein-like 5 0.180631
VPS13B vacuolar protein sorting 13 homolog B (yeast) 0.180318
ORC5 origin recognition complex, subunit 5 0.180287
IVD isovaleryl-CoA dehydrogenase 0.180195
SEMA5B sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 0.179687
ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif, 6 0.179542
TMTC1 transmembrane and tetratricopeptide repeat containing 1 0.179088
MS4A14 membrane-spanning 4-domains, subfamily A, member 14 0.179033
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1 0.178759
CTNND2 catenin (cadherin-associated protein), delta 2 0.178518
DZANK1 double zinc ribbon and ankyrin repeat domains 1 0.178256
CDH13 cadherin 13 0.178256
SCG3 secretogranin III 0.178152
IQSEC2 IQ motif and Sec7 domain 2 0.177214
TSEN54 TSEN54 tRNA splicing endonuclease subunit 0.17684
COL4A2 collagen, type IV, alpha 2 0.176817
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 0.176748
ASL argininosuccinate lyase 0.176477
GSDMB gasdermin B 0.176477
BEND6 BEN domain containing 6 0.176455
SLC26A6 solute carrier family 26 (anion exchanger), member 6 0.176455
LOC152225 uncharacterized LOC152225 0.175847
CASP6 caspase 6, apoptosis-related cysteine peptidase 0.175513
RELN reelin 0.175513
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome 0.175513
GALNT18 polypeptide N-acetylgalactosaminyltransferase 18 0.175411
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 0.174757
FAM35A family with sequence similarity 35, member A 0.174584
MOB3B MOB kinase activator 3B 0.174377
OPCML opioid binding protein/cell adhesion molecule-like 0.174137
PLXNC1 plexin C1 0.174119
CDH19 cadherin 19, type 2 0.173919
NPSR1 neuropeptide S receptor 1 0.173548
CRLS1 cardiolipin synthase 1 0.173462
COL6A2 collagen, type VI, alpha 2 0.17329
LRP1B low density lipoprotein receptor-related protein 1B 0.173256
HS3ST4 heparan sulfate (glucosamine) 3-O-sulfotransferase 4 0.173004
ZNF605 zinc finger protein 605 0.172856
ETV7 ets variant 7 0.172856
PRR5L proline rich 5 like 0.172532
GAK cyclin G associated kinase 0.172155
DPF3 D4, zinc and double PHD fingers, family 3 0.171941
RAD52 RAD52 homolog (S. cerevisiae) 0.171896
GTF2A1 general transcription factor IIA, 1, 19/37kDa 0.171553
LINC01194 long intergenic non-protein coding RNA 1194 0.171535
AKAP13 A kinase (PRKA) anchor protein 13 0.171517
MPDZ multiple PDZ domain protein 0.171248
CPEB2 cytoplasmic polyadenylation element binding protein 2 0.171125
FA2H fatty acid 2-hydroxylase 0.171038
CEP72 centrosomal protein 72kDa 0.170795
GRXCR1 glutaredoxin, cysteine rich 1 0.17071
UBE2L3 ubiquitin-conjugating enzyme E2L 3 0.170406
MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 0.170307
TCF4 transcription factor 4 0.170191
TTLL5 tubulin tyrosine ligase-like family member 5 0.16947
SORCS1 sortilin-related VPS10 domain containing receptor 1 0.16947
ZC3H12C zinc finger CCCH-type containing 12C 0.169439
CDH4 cadherin 4, type 1, R-cadherin (retinal) 0.169377
GSDMA gasdermin A 0.169131
TMEM51-AS1 TMEM51 antisense RNA 1 0.168979
FUT2 fucosyltransferase 2 (secretor status included) 0.168919
C9ORF171 chromosome 9 open reading frame 171 0.168859
SLC20A2 solute carrier family 20 (phosphate transporter), member 2 0.168754
PEMT phosphatidylethanolamine N-methyltransferase 0.16871
ERBB4 erb-b2 receptor tyrosine kinase 4 0.16868
SOS2 son of sevenless homolog 2 (Drosophila) 0.168577
NTRK2 neurotrophic tyrosine kinase, receptor, type 2 0.160759
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha 0.160023
SLC44A4 solute carrier family 44, member 4 0.158804
CSN3 casein kappa 0.158444
ST18 suppression of tumorigenicity 18, zinc finger 0.157091
DDAH1 dimethylarginine dimethylaminohydrolase 1 0.15276
CDSN corneodesmosin 0.148378
ERAP1 endoplasmic reticulum aminopeptidase 1 0.146097
UBR7 ubiquitin protein ligase E3 component n-recognin 7 (putative) 0.14395
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 0.141576
ERAP2 endoplasmic reticulum aminopeptidase 2 0.139458
BCL2 B-cell CLL/lymphoma 2 0.139353
ADAMTSL1 ADAMTS-like 1 0.136282