integumentary system disease Gene Set

Dataset GWASdb SNP-Disease Associations
Category disease or phenotype associations
Type disease
Description A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages. (Human Disease Ontology, DOID_16)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/DOID:16
Similar Terms
Downloads & Tools

Genes

339 genes associated with the disease integumentary system 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 2.1907
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) 1.96403
IRF4 interferon regulatory factor 4 1.66464
AFG3L1P AFG3-like AAA ATPase 1, pseudogene 1.61387
FANCA Fanconi anemia, complementation group A 1.57037
OCA2 oculocutaneous albinism II 1.47386
CDK10 cyclin-dependent kinase 10 1.44313
ZNF276 zinc finger protein 276 1.39929
DPEP1 dipeptidase 1 (renal) 1.38312
SPATA33 spermatogenesis associated 33 1.34585
SPIRE2 spire-type actin nucleation factor 2 1.19678
AR androgen receptor 1.0565
CHMP1A charged multivesicular body protein 1A 0.841587
PRDM7 PR domain containing 7 0.702427
EDA2R ectodysplasin A2 receptor 0.680312
TNXB tenascin XB 0.633249
DBNDD1 dysbindin (dystrobrevin binding protein 1) domain containing 1 0.579701
ANKRD11 ankyrin repeat domain 11 0.539339
C6ORF10 chromosome 6 open reading frame 10 0.529306
CTXN2 cortexin 2 0.513284
TCHH trichohyalin 0.506033
TPCN2 two pore segment channel 2 0.486542
NOTCH4 notch 4 0.483201
CPNE7 copine VII 0.470965
C2 complement component 2 0.470378
MUC22 mucin 22 0.469561
OPHN1 oligophrenin 1 0.469542
IL13 interleukin 13 0.464567
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive) 0.45961
HLA-C major histocompatibility complex, class I, C 0.457774
CCHCR1 coiled-coil alpha-helical rod protein 1 0.454538
HEPH hephaestin 0.453604
ZNF365 zinc finger protein 365 0.442918
SLC45A2 solute carrier family 45, member 2 0.441847
SPATA2L spermatogenesis associated 2-like 0.441337
HCP5 HLA complex P5 (non-protein coding) 0.436575
IL12B interleukin 12B 0.435456
TNF tumor necrosis factor 0.434782
TRIM15 tripartite motif containing 15 0.432356
GAS8 growth arrest-specific 8 0.426643
ABHD16A abhydrolase domain containing 16A 0.420011
DUT deoxyuridine triphosphatase 0.409598
CENPBD1 CENPB DNA-binding domains containing 1 0.409442
LST1 leukocyte specific transcript 1 0.40895
BTNL2 butyrophilin-like 2 0.406256
DEF8 differentially expressed in FDCP 8 homolog (mouse) 0.405098
PSORS1C1 psoriasis susceptibility 1 candidate 1 0.402703
SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 0.400488
TYR tyrosinase 0.399205
GLB1 galactosidase, beta 1 0.398562
REV3L REV3-like, polymerase (DNA directed), zeta, catalytic subunit 0.390149
ZNF778 zinc finger protein 778 0.387298
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1 0.385824
HLA-DOB major histocompatibility complex, class II, DO beta 0.379726
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 0.377193
DPCR1 diffuse panbronchiolitis critical region 1 0.370973
CSMD1 CUB and Sushi multiple domains 1 0.370878
KCNH7 potassium channel, voltage gated eag related subfamily H, member 7 0.369883
LOC285626 uncharacterized LOC285626 0.36943
MUC21 mucin 21, cell surface associated 0.36767
RNF5 ring finger protein 5, E3 ubiquitin protein ligase 0.366884
TRAF3IP2 TRAF3 interacting protein 2 0.356977
CDK5RAP1 CDK5 regulatory subunit associated protein 1 0.342457
RAD50 RAD50 homolog (S. cerevisiae) 0.342188
TRIM40 tripartite motif containing 40 0.33431
DDX39B DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B 0.32597
SHC4 SHC (Src homology 2 domain containing) family, member 4 0.32585
ZMIZ1 zinc finger, MIZ-type containing 1 0.322552
DDR1 discoidin domain receptor tyrosine kinase 1 0.32097
TCF19 transcription factor 19 0.312174
HDAC9 histone deacetylase 9 0.306141
MCCD1 mitochondrial coiled-coil domain 1 0.303156
EXOC2 exocyst complex component 2 0.301304
IL2RA interleukin 2 receptor, alpha 0.301051
STK19 serine/threonine kinase 19 0.296574
ATP6V1G2-DDX39B ATP6V1G2-DDX39B readthrough (NMD candidate) 0.295449
TNFAIP3 tumor necrosis factor, alpha-induced protein 3 0.293105
TUBB3 tubulin, beta 3 class III 0.290289
NTM neurotrimin 0.287207
HCG22 HLA complex group 22 0.285186
GJB2 gap junction protein, beta 2, 26kDa 0.283831
CAST calpastatin 0.281159
HCG9 HLA complex group 9 (non-protein coding) 0.279089
NOS2 nitric oxide synthase 2, inducible 0.278696
TYK2 tyrosine kinase 2 0.278696
MICB MHC class I polypeptide-related sequence B 0.277541
C1ORF127 chromosome 1 open reading frame 127 0.271825
DACH1 dachshund family transcription factor 1 0.270265
TRIM31 tripartite motif containing 31 0.26843
ZNF816-ZNF321P ZNF816-ZNF321P readthrough 0.266038
FLG-AS1 FLG antisense RNA 1 0.262904
CEP152 centrosomal protein 152kDa 0.262389
OPCML opioid binding protein/cell adhesion molecule-like 0.259227
SPPL2C signal peptide peptidase like 2C 0.257533
MBNL2 muscleblind-like splicing regulator 2 0.256956
TCF25 transcription factor 25 (basic helix-loop-helix) 0.255202
ATP8B4 ATPase, class I, type 8B, member 4 0.25216
THRB thyroid hormone receptor, beta 0.252023
FBXL19 F-box and leucine-rich repeat protein 19 0.252003
STAT2 signal transducer and activator of transcription 2, 113kDa 0.251019
FBXO40 F-box protein 40 0.251019
SLC14A2 solute carrier family 14 (urea transporter), member 2 0.240889
SLC16A12 solute carrier family 16, member 12 0.240021
PIGU phosphatidylinositol glycan anchor biosynthesis, class U 0.238505
ZC3H12D zinc finger CCCH-type containing 12D 0.238412
STXBP5L syntaxin binding protein 5-like 0.238275
NCOA6 nuclear receptor coactivator 6 0.237209
GRM5 glutamate receptor, metabotropic 5 0.236258
MAPT microtubule-associated protein tau 0.233429
SEMA6D sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 0.232582
SPATA2 spermatogenesis associated 2 0.230051
MAPT-AS1 MAPT antisense RNA 1 0.227373
EIF6 eukaryotic translation initiation factor 6 0.225527
POU5F1 POU class 5 homeobox 1 0.223395
KIAA0391 KIAA0391 0.223395
KANSL1 KAT8 regulatory NSL complex subunit 1 0.221901
RTEL1 regulator of telomere elongation helicase 1 0.219548
IL23R interleukin 23 receptor 0.219548
SNORD48 small nucleolar RNA, C/D box 48 0.218969
KIF3A kinesin family member 3A 0.21684
LOC100288310 uncharacterized LOC100288310 0.216315
TMEM232 transmembrane protein 232 0.216096
CRHR1 corticotropin releasing hormone receptor 1 0.214996
FRAS1 Fraser extracellular matrix complex subunit 1 0.211619
ACSF3 acyl-CoA synthetase family member 3 0.210042
HLA-A major histocompatibility complex, class I, A 0.208323
THADA thyroid adenoma associated 0.208323
PTGER3 prostaglandin E receptor 3 (subtype EP3) 0.20825
HCG26 HLA complex group 26 (non-protein coding) 0.206497
MALRD1 MAM and LDL receptor class A domain containing 1 0.20557
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit 0.205303
NOTCH1 notch 1 0.198948
KIRREL3 kin of IRRE like 3 (Drosophila) 0.195244
STX17 syntaxin 17 0.195244
FHIT fragile histidine triad 0.189821
ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif, 20 0.1864
CRACR2A calcium release activated channel regulator 2A 0.1864
WNT10A wingless-type MMTV integration site family, member 10A 0.1864
PAK6 p21 protein (Cdc42/Rac)-activated kinase 6 0.183063
NREP neuronal regeneration related protein 0.182671
SLC22A23 solute carrier family 22, member 23 0.181933
COG6 component of oligomeric golgi complex 6 0.179828
RNF114 ring finger protein 114 0.179828
ITK IL2-inducible T-cell kinase 0.179781
ST8SIA5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 0.179414
APOLD1 apolipoprotein L domain containing 1 0.178313
ALDH1A1 aldehyde dehydrogenase 1 family, member A1 0.178077
ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 0.177548
OAF OAF homolog (Drosophila) 0.177013
ADIPOR2 adiponectin receptor 2 0.176029
PRDM15 PR domain containing 15 0.176029
ANO2 anoctamin 2, calcium activated chloride channel 0.174754
TFDP1 transcription factor Dp-1 0.174727
THTPA thiamine triphosphatase 0.174384
CAMK2G calcium/calmodulin-dependent protein kinase II gamma 0.173612
EPAS1 endothelial PAS domain protein 1 0.173518
NTN4 netrin 4 0.173354
PPARGC1B peroxisome proliferator-activated receptor gamma, coactivator 1 beta 0.173354
WWOX WW domain containing oxidoreductase 0.173239
LDLRAD3 low density lipoprotein receptor class A domain containing 3 0.17308
CPVL carboxypeptidase, vitellogenic-like 0.171738
LGR4 leucine-rich repeat containing G protein-coupled receptor 4 0.171386
POLR3G polymerase (RNA) III (DNA directed) polypeptide G (32kD) 0.171158
NELL1 NEL-like 1 (chicken) 0.171158
LMO1 LIM domain only 1 (rhombotin 1) 0.171045
ITLN2 intelectin 2 0.170714
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme 0.170456
MICA MHC class I polypeptide-related sequence A 0.170414
IQSEC3 IQ motif and Sec7 domain 3 0.17008
ZNF217 zinc finger protein 217 0.169213
TSHR thyroid stimulating hormone receptor 0.169099
NCF4 neutrophil cytosolic factor 4, 40kDa 0.169099
ZNF521 zinc finger protein 521 0.169099
CLEC16A C-type lectin domain family 16, member A 0.169099
TSC1 tuberous sclerosis 1 0.169099
ALPK1 alpha-kinase 1 0.168062
ZDHHC23 zinc finger, DHHC-type containing 23 0.167367
PELI1 pellino E3 ubiquitin protein ligase 1 0.167367
MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 0.167176
ZNF407 zinc finger protein 407 0.167114
BCL7C B-cell CLL/lymphoma 7C 0.166299
CAPZB capping protein (actin filament) muscle Z-line, beta 0.165872
EHMT2 euchromatic histone-lysine N-methyltransferase 2 0.165234
HCG23 HLA complex group 23 (non-protein coding) 0.164961
ACOX1 acyl-CoA oxidase 1, palmitoyl 0.164707
STARD13 StAR-related lipid transfer (START) domain containing 13 0.164373
IMPG2 interphotoreceptor matrix proteoglycan 2 0.164252
LOC400655 uncharacterized LOC400655 0.163609
UNC5C unc-5 homolog C (C. elegans) 0.163407
PHF12 PHD finger protein 12 0.162633
ANKRD55 ankyrin repeat domain 55 0.162428
TRAP1 TNF receptor-associated protein 1 0.162326
THSD4 thrombospondin, type I, domain containing 4 0.16109
CASC2 cancer susceptibility candidate 2 (non-protein coding) 0.160911
LRRN2 leucine rich repeat neuronal 2 0.160911
DCBLD1 discoidin, CUB and LCCL domain containing 1 0.160649
ARHGAP31 Rho GTPase activating protein 31 0.160649
ACO1 aconitase 1, soluble 0.160062
SETD1A SET domain containing 1A 0.159661
RALGDS ral guanine nucleotide dissociation stimulator 0.159427
ATF6B activating transcription factor 6 beta 0.15935
FTO fat mass and obesity associated 0.158901
RYR2 ryanodine receptor 2 (cardiac) 0.158683
NAV2 neuron navigator 2 0.15833
MYLK myosin light chain kinase 0.157788
EFCAB5 EF-hand calcium binding domain 5 0.157788
TSPAN18 tetraspanin 18 0.157398
C10ORF128 chromosome 10 open reading frame 128 0.157335
SOX5 SRY (sex determining region Y)-box 5 0.157084
ILF3 interleukin enhancer binding factor 3, 90kDa 0.1569
CGNL1 cingulin-like 1 0.15666
SF3A2 splicing factor 3a, subunit 2, 66kDa 0.156483
LOC646890 axin interactor, dorsalization associated pseudogene 0.156366
KIAA0922 KIAA0922 0.156309
DDX58 DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 0.156251
TVP23A trans-golgi network vesicle protein 23 homolog A (S. cerevisiae) 0.155969
FBN1 fibrillin 1 0.155969
M6PR mannose-6-phosphate receptor (cation dependent) 0.155748
ZNF18 zinc finger protein 18 0.155748
FNDC3B fibronectin type III domain containing 3B 0.155478
MSH5 mutS homolog 5 0.155373
TMEM100 transmembrane protein 100 0.154908
MAML2 mastermind-like 2 (Drosophila) 0.154659
COL28A1 collagen, type XXVIII, alpha 1 0.154659
IL1R2 interleukin 1 receptor, type II 0.154415
SERPINB8 serpin peptidase inhibitor, clade B (ovalbumin), member 8 0.154367
CPNE4 copine IV 0.154224
ST3GAL1 ST3 beta-galactoside alpha-2,3-sialyltransferase 1 0.154083
CD244 CD244 molecule, natural killer cell receptor 2B4 0.153318
CHST8 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 0.15306
INSC inscuteable homolog (Drosophila) 0.152768
SPATA5 spermatogenesis associated 5 0.152727
ETV6 ets variant 6 0.152363
PCBP1-AS1 PCBP1 antisense RNA 1 0.152245
ALAD aminolevulinate dehydratase 0.152206
ACAP2 ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 0.151935
HSPA1L heat shock 70kDa protein 1-like 0.151784
LOC440040 glutamate receptor, metabotropic 5 pseudogene 0.151635
STXBP6 syntaxin binding protein 6 (amisyn) 0.151561
PRKCQ protein kinase C, theta 0.151451
C15ORF26 chromosome 15 open reading frame 26 0.151342
ESPNP espin pseudogene 0.151342
FAM91A1 family with sequence similarity 91, member A1 0.151271
TGM6 transglutaminase 6 0.150953
RNF103-CHMP3 RNF103-CHMP3 readthrough 0.15085
PHLDB2 pleckstrin homology-like domain, family B, member 2 0.150578
YPEL1 yippee-like 1 (Drosophila) 0.150151
PPIL2 peptidylprolyl isomerase (cyclophilin)-like 2 0.149897
ELMO1 engulfment and cell motility 1 0.149741
ZBTB16 zinc finger and BTB domain containing 16 0.149316
MAPK6 mitogen-activated protein kinase 6 0.149139
ANKRD44 ankyrin repeat domain 44 0.148966
ITSN2 intersectin 2 0.148851
ACCSL 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like 0.148851
CNTNAP5 contactin associated protein-like 5 0.148598
VPS13B vacuolar protein sorting 13 homolog B (yeast) 0.148324
ORC5 origin recognition complex, subunit 5 0.148297
IVD isovaleryl-CoA dehydrogenase 0.148217
EPB41L4A erythrocyte membrane protein band 4.1 like 4A 0.147874
SEMA5B sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 0.147771
ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif, 6 0.147644
TMTC1 transmembrane and tetratricopeptide repeat containing 1 0.147246
MS4A14 membrane-spanning 4-domains, subfamily A, member 14 0.147197
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1 0.146957
CTNND2 catenin (cadherin-associated protein), delta 2 0.146746
CDH13 cadherin 13 0.146516
DZANK1 double zinc ribbon and ankyrin repeat domains 1 0.146516
SCG3 secretogranin III 0.146425
TMEM215 transmembrane protein 215 0.146224
DLGAP1 discs, large (Drosophila) homolog-associated protein 1 0.145855
IQSEC2 IQ motif and Sec7 domain 2 0.145602
TSEN54 TSEN54 tRNA splicing endonuclease subunit 0.145274
COL4A2 collagen, type IV, alpha 2 0.145254
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 0.145193
SGK1 serum/glucocorticoid regulated kinase 1 0.145133
GSDMB gasdermin B 0.144956
ASL argininosuccinate lyase 0.144956
BEND6 BEN domain containing 6 0.144936
SLC26A6 solute carrier family 26 (anion exchanger), member 6 0.144936
LOC152225 uncharacterized LOC152225 0.144403
LGALS14 lectin, galactoside-binding, soluble, 14 0.144292
CASP6 caspase 6, apoptosis-related cysteine peptidase 0.14411
RELN reelin 0.14411
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome 0.14411
GALNT18 polypeptide N-acetylgalactosaminyltransferase 18 0.14402
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 0.143446
FAM35A family with sequence similarity 35, member A 0.143294
MOB3B MOB kinase activator 3B 0.143112
PLXNC1 plexin C1 0.142885
CDH19 cadherin 19, type 2 0.14271
NPSR1 neuropeptide S receptor 1 0.142384
CRLS1 cardiolipin synthase 1 0.142308
COL6A2 collagen, type VI, alpha 2 0.142158
LRP1B low density lipoprotein receptor-related protein 1B 0.142128
HS3ST4 heparan sulfate (glucosamine) 3-O-sulfotransferase 4 0.141907
ETV7 ets variant 7 0.141776
ZNF605 zinc finger protein 605 0.141776
PRR5L proline rich 5 like 0.141492
GAK cyclin G associated kinase 0.141161
DPF3 D4, zinc and double PHD fingers, family 3 0.140973
RAD52 RAD52 homolog (S. cerevisiae) 0.140933
GTF2A1 general transcription factor IIA, 1, 19/37kDa 0.140684
LINC01194 long intergenic non-protein coding RNA 1194 0.140671
ZNF677 zinc finger protein 677 0.140658
AKAP13 A kinase (PRKA) anchor protein 13 0.140658
UBE2E2 ubiquitin-conjugating enzyme E2E 2 0.140542
MPDZ multiple PDZ domain protein 0.140466
CPEB2 cytoplasmic polyadenylation element binding protein 2 0.140377
FA2H fatty acid 2-hydroxylase 0.140314
CEP72 centrosomal protein 72kDa 0.140141
GRXCR1 glutaredoxin, cysteine rich 1 0.14008
UBE2L3 ubiquitin-conjugating enzyme E2L 3 0.139862
MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 0.13979
TCF4 transcription factor 4 0.139708
SORCS1 sortilin-related VPS10 domain containing receptor 1 0.13919
TTLL5 tubulin tyrosine ligase-like family member 5 0.13919
ZC3H12C zinc finger CCCH-type containing 12C 0.139168
CDH4 cadherin 4, type 1, R-cadherin (retinal) 0.139123
GSDMA gasdermin A 0.138947
TMEM51-AS1 TMEM51 antisense RNA 1 0.138838
FUT2 fucosyltransferase 2 (secretor status included) 0.138795
C9ORF171 chromosome 9 open reading frame 171 0.138752
SLC20A2 solute carrier family 20 (phosphate transporter), member 2 0.138677
PEMT phosphatidylethanolamine N-methyltransferase 0.138645
ERBB4 erb-b2 receptor tyrosine kinase 4 0.138624
SOS2 son of sevenless homolog 2 (Drosophila) 0.13855
NTRK2 neurotrophic tyrosine kinase, receptor, type 2 0.131213
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha 0.130516
SLC44A4 solute carrier family 44, member 4 0.12936
CSN3 casein kappa 0.129019
ST18 suppression of tumorigenicity 18, zinc finger 0.127736
DDAH1 dimethylarginine dimethylaminohydrolase 1 0.123629
CDSN corneodesmosin 0.11947
ERAP1 endoplasmic reticulum aminopeptidase 1 0.117305
UBR7 ubiquitin protein ligase E3 component n-recognin 7 (putative) 0.115266
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 0.113012
ERAP2 endoplasmic reticulum aminopeptidase 2 0.110999
BCL2 B-cell CLL/lymphoma 2 0.110899
ADAMTSL1 ADAMTS-like 1 0.10845