abnormality of skin physiology Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Any abnormality of the physiological function of the skin. (Human Phenotype Ontology, HP_0011122)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0011122
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Genes

214 genes associated with the abnormality of skin physiology phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

Symbol Name Standardized Value
HLA-C major histocompatibility complex, class I, C 1.71641
TNXB tenascin XB 1.34943
C2 complement component 2 1.11248
MUC22 mucin 22 1.10772
C6ORF10 chromosome 6 open reading frame 10 1.09876
IL13 interleukin 13 1.07418
CCHCR1 coiled-coil alpha-helical rod protein 1 1.00634
NOTCH4 notch 4 1.00426
HCP5 HLA complex P5 (non-protein coding) 0.879094
IL12B interleukin 12B 0.870161
TNF tumor necrosis factor 0.864849
ZNF365 zinc finger protein 365 0.769389
ABHD16A abhydrolase domain containing 16A 0.751107
LST1 leukocyte specific transcript 1 0.661889
GLB1 galactosidase, beta 1 0.583923
TRAF3IP2 TRAF3 interacting protein 2 0.572823
REV3L REV3-like, polymerase (DNA directed), zeta, catalytic subunit 0.544629
HLA-DOB major histocompatibility complex, class II, DO beta 0.515131
KCNH7 potassium channel, voltage gated eag related subfamily H, member 7 0.488705
LOC285626 uncharacterized LOC285626 0.487519
MUC21 mucin 21, cell surface associated 0.482561
RNF5 ring finger protein 5, E3 ubiquitin protein ligase 0.480325
TRIM15 tripartite motif containing 15 0.474812
RAD50 RAD50 homolog (S. cerevisiae) 0.418525
PSORS1C1 psoriasis susceptibility 1 candidate 1 0.41341
TRIM40 tripartite motif containing 40 0.412073
DDR1 discoidin domain receptor tyrosine kinase 1 0.405201
CSMD1 CUB and Sushi multiple domains 1 0.403594
TCF19 transcription factor 19 0.400822
DPCR1 diffuse panbronchiolitis critical region 1 0.398292
MCCD1 mitochondrial coiled-coil domain 1 0.396147
ATP6V1G2-DDX39B ATP6V1G2-DDX39B readthrough (NMD candidate) 0.392063
TNFAIP3 tumor necrosis factor, alpha-induced protein 3 0.390657
HCG22 HLA complex group 22 0.385404
GJB2 gap junction protein, beta 2, 26kDa 0.384479
CAST calpastatin 0.382926
NOS2 nitric oxide synthase 2, inducible 0.381408
TYK2 tyrosine kinase 2 0.381408
ZNF816-ZNF321P ZNF816-ZNF321P readthrough 0.373471
TCHH trichohyalin 0.36947
FBXL19 F-box and leucine-rich repeat protein 19 0.365189
STAT2 signal transducer and activator of transcription 2, 113kDa 0.36465
FNDC3A fibronectin type III domain containing 3A 0.360493
ZC3H12D zinc finger CCCH-type containing 12D 0.357155
SPATA2 spermatogenesis associated 2 0.351631
KIAA0391 KIAA0391 0.347284
IL23R interleukin 23 receptor 0.344704
RTEL1 regulator of telomere elongation helicase 1 0.344704
SNORD48 small nucleolar RNA, C/D box 48 0.344315
KIF3A kinesin family member 3A 0.342868
TMEM232 transmembrane protein 232 0.342318
HLA-A major histocompatibility complex, class I, A 0.336547
COL6A5 collagen, type VI, alpha 5 0.3353
CEP350 centrosomal protein 350kDa 0.334738
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit 0.334224
SLC19A1 solute carrier family 19 (folate transporter), member 1 0.333193
MAP3K5 mitogen-activated protein kinase kinase kinase 5 0.326374
RNF114 ring finger protein 114 0.311139
DDX39B DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B 0.311139
PKDCC protein kinase domain containing, cytoplasmic 0.311139
COG6 component of oligomeric golgi complex 6 0.311139
OAF OAF homolog (Drosophila) 0.307871
IMMP2L IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) 0.307209
ANO2 anoctamin 2, calcium activated chloride channel 0.30525
TFDP1 transcription factor Dp-1 0.305219
THTPA thiamine triphosphatase 0.30482
NTN4 netrin 4 0.303627
WWOX WW domain containing oxidoreductase 0.303493
POLR3G polymerase (RNA) III (DNA directed) polypeptide G (32kD) 0.300932
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme 0.300109
TSC1 tuberous sclerosis 1 0.298516
NCF4 neutrophil cytosolic factor 4, 40kDa 0.298516
CLEC16A C-type lectin domain family 16, member A 0.298516
PELI1 pellino E3 ubiquitin protein ligase 1 0.296483
MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 0.296259
BCL7C B-cell CLL/lymphoma 7C 0.295231
IMPG2 interphotoreceptor matrix proteoglycan 2 0.292831
LOC400655 uncharacterized LOC400655 0.292078
PHF12 PHD finger protein 12 0.290936
ANKRD55 ankyrin repeat domain 55 0.290695
LRRN2 leucine rich repeat neuronal 2 0.288921
ARHGAP31 Rho GTPase activating protein 31 0.288614
ACO1 aconitase 1, soluble 0.287927
SETD1A SET domain containing 1A 0.287458
FTO fat mass and obesity associated 0.286492
RYR2 ryanodine receptor 2 (cardiac) 0.286187
THRB thyroid hormone receptor, beta 0.285791
EFCAB5 EF-hand calcium binding domain 5 0.284935
MYLK myosin light chain kinase 0.284935
TSPAN18 tetraspanin 18 0.284392
C10ORF128 chromosome 10 open reading frame 128 0.284303
SOX5 SRY (sex determining region Y)-box 5 0.283953
ILF3 interleukin enhancer binding factor 3, 90kDa 0.283696
CGNL1 cingulin-like 1 0.28336
SF3A2 splicing factor 3a, subunit 2, 66kDa 0.283113
LOC646890 axin interactor, dorsalization associated pseudogene 0.282951
KIAA0922 KIAA0922 0.28287
DDX58 DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 0.28279
STK19 serine/threonine kinase 19 0.282474
TVP23A trans-golgi network vesicle protein 23 homolog A (S. cerevisiae) 0.282396
COL28A1 collagen, type XXVIII, alpha 1 0.28057
MAML2 mastermind-like 2 (Drosophila) 0.28057
CD244 CD244 molecule, natural killer cell receptor 2B4 0.278703
NETO1 neuropilin (NRP) and tolloid (TLL)-like 1 0.278463
CHST8 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 0.278345
INSC inscuteable homolog (Drosophila) 0.277938
PCBP1-AS1 PCBP1 antisense RNA 1 0.277211
LOC440040 glutamate receptor, metabotropic 5 pseudogene 0.276363
STXBP6 syntaxin binding protein 6 (amisyn) 0.27626
ESPNP espin pseudogene 0.275957
C15ORF26 chromosome 15 open reading frame 26 0.275957
FAM91A1 family with sequence similarity 91, member A1 0.275857
TGM6 transglutaminase 6 0.275416
RNF103-CHMP3 RNF103-CHMP3 readthrough 0.275272
EXOC2 exocyst complex component 2 0.274895
YPEL1 yippee-like 1 (Drosophila) 0.274303
PPIL2 peptidylprolyl isomerase (cyclophilin)-like 2 0.27395
ELMO1 engulfment and cell motility 1 0.273734
MBNL2 muscleblind-like splicing regulator 2 0.273063
MAPK6 mitogen-activated protein kinase 6 0.2729
ANKRD44 ankyrin repeat domain 44 0.272659
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 0.272227
CNTNAP5 contactin associated protein-like 5 0.27215
VPS13B vacuolar protein sorting 13 homolog B (yeast) 0.27177
KIRREL3 kin of IRRE like 3 (Drosophila) 0.270933
ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif, 6 0.270828
TMTC1 transmembrane and tetratricopeptide repeat containing 1 0.270277
MS4A14 membrane-spanning 4-domains, subfamily A, member 14 0.27021
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1 0.269878
CTNND2 catenin (cadherin-associated protein), delta 2 0.269585
DZANK1 double zinc ribbon and ankyrin repeat domains 1 0.269267
CDH13 cadherin 13 0.269267
SCG3 secretogranin III 0.269142
NCKAP5 NCK-associated protein 5 0.268016
IQSEC2 IQ motif and Sec7 domain 2 0.267851
IL1R2 interleukin 1 receptor, type II 0.267591
TSEN54 TSEN54 tRNA splicing endonuclease subunit 0.267335
COL4A2 collagen, type IV, alpha 2 0.267304
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 0.267209
GSDMB gasdermin B 0.266835
ASL argininosuccinate lyase 0.266835
SLC26A6 solute carrier family 26 (anion exchanger), member 6 0.266805
MAEL maelstrom spermatogenic transposon silencer 0.266261
LOC152225 uncharacterized LOC152225 0.265967
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome 0.265507
CASP6 caspase 6, apoptosis-related cysteine peptidase 0.265507
ZHX2 zinc fingers and homeoboxes 2 0.265338
MPP6 membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 0.265198
BSND barttin CLCNK-type chloride channel accessory beta subunit 0.26476
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 0.264465
FAM35A family with sequence similarity 35, member A 0.264228
MOB3B MOB kinase activator 3B 0.263942
CDH19 cadherin 19, type 2 0.263313
NPSR1 neuropeptide S receptor 1 0.262802
CRLS1 cardiolipin synthase 1 0.262683
COL6A2 collagen, type VI, alpha 2 0.262447
BAG3 BCL2-associated athanogene 3 0.262424
LRP1B low density lipoprotein receptor-related protein 1B 0.2624
HS3ST4 heparan sulfate (glucosamine) 3-O-sulfotransferase 4 0.262054
ETV7 ets variant 7 0.26185
ZNF605 zinc finger protein 605 0.26185
PRR5L proline rich 5 like 0.261405
TRPC4AP transient receptor potential cation channel, subfamily C, member 4 associated protein 0.260994
GAK cyclin G associated kinase 0.260887
DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6 0.260824
DPF3 D4, zinc and double PHD fingers, family 3 0.260593
LINC01194 long intergenic non-protein coding RNA 1194 0.260121
AKAP13 A kinase (PRKA) anchor protein 13 0.260101
CPEB2 cytoplasmic polyadenylation element binding protein 2 0.259663
FA2H fatty acid 2-hydroxylase 0.259565
CEP72 centrosomal protein 72kDa 0.259294
MRPL4 mitochondrial ribosomal protein L4 0.259065
UBE2L3 ubiquitin-conjugating enzyme E2L 3 0.258858
TCF4 transcription factor 4 0.258617
DFNA5 deafness, autosomal dominant 5 0.258326
TTLL5 tubulin tyrosine ligase-like family member 5 0.25781
ZC3H12C zinc finger CCCH-type containing 12C 0.257775
CDH4 cadherin 4, type 1, R-cadherin (retinal) 0.257706
GSDMA gasdermin A 0.25743
TMEM51-AS1 TMEM51 antisense RNA 1 0.257261
FUT2 fucosyltransferase 2 (secretor status included) 0.257193
C9ORF171 chromosome 9 open reading frame 171 0.257126
SLC20A2 solute carrier family 20 (phosphate transporter), member 2 0.25701
PEMT phosphatidylethanolamine N-methyltransferase 0.25696
ERBB4 erb-b2 receptor tyrosine kinase 4 0.256927
SOS2 son of sevenless homolog 2 (Drosophila) 0.256811
RFTN1 raftlin, lipid raft linker 1 0.256439
B3GALT5 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 0.255965
BHMT2 betaine--homocysteine S-methyltransferase 2 0.253791
PEX5 peroxisomal biogenesis factor 5 0.253656
NCAM2 neural cell adhesion molecule 2 0.249757
GGT7 gamma-glutamyltransferase 7 0.248876
NTRK2 neurotrophic tyrosine kinase, receptor, type 2 0.247923
CSF1R colony stimulating factor 1 receptor 0.247218
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha 0.247022
CSN3 casein kappa 0.245088
DDAH1 dimethylarginine dimethylaminohydrolase 1 0.238142
LCN1 lipocalin 1 0.236196
SMAD2 SMAD family member 2 0.2354
IGSF21 immunoglobin superfamily, member 21 0.233607
CUX2 cut-like homeobox 2 0.231334
KIF24 kinesin family member 24 0.230702
ERAP1 endoplasmic reticulum aminopeptidase 1 0.230024
YEATS2 YEATS domain containing 2 0.229746
PTGER3 prostaglandin E receptor 3 (subtype EP3) 0.229305
UBR7 ubiquitin protein ligase E3 component n-recognin 7 (putative) 0.227173
CHRNA2 cholinergic receptor, nicotinic, alpha 2 (neuronal) 0.225313
CREB3L2 cAMP responsive element binding protein 3-like 2 0.223934
PVR poliovirus receptor 0.222083
IPCEF1 interaction protein for cytohesin exchange factors 1 0.221679
ERAP2 endoplasmic reticulum aminopeptidase 2 0.220994
BCL2 B-cell CLL/lymphoma 2 0.220851
DNMT1 DNA (cytosine-5-)-methyltransferase 1 0.219388
ADAMTSL1 ADAMTS-like 1 0.217317