abnormality of skin pigmentation Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the pigmentation of the skin. (Human Phenotype Ontology, HP_0001000)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0001000
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Genes

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

Symbol Name Standardized Value
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 2.98845
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) 2.96919
OCA2 oculocutaneous albinism II 2.6129
AFG3L1P AFG3-like AAA ATPase 1, pseudogene 2.60742
CTXN2 cortexin 2 2.44171
ZNF276 zinc finger protein 276 2.37936
DPEP1 dipeptidase 1 (renal) 2.36934
SPATA33 spermatogenesis associated 33 2.3534
SPIRE2 spire-type actin nucleation factor 2 2.22908
CDK10 cyclin-dependent kinase 10 2.1401
FANCA Fanconi anemia, complementation group A 2.12247
CHMP1A charged multivesicular body protein 1A 2.0492
DUT deoxyuridine triphosphatase 2.04696
PRDM7 PR domain containing 7 1.96614
DBNDD1 dysbindin (dystrobrevin binding protein 1) domain containing 1 1.93111
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1 1.9306
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 1.89941
ANKRD11 ankyrin repeat domain 11 1.84749
SLC44A4 solute carrier family 44, member 4 1.81736
SHC4 SHC (Src homology 2 domain containing) family, member 4 1.65526
SPATA2L spermatogenesis associated 2-like 1.6456
CPNE7 copine VII 1.62822
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive) 1.58889
CEP152 centrosomal protein 152kDa 1.40373
TYR tyrosinase 1.38847
GAS8 growth arrest-specific 8 1.37522
ATP8B4 ATPase, class I, type 8B, member 4 1.35962
SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 1.2976
ZNF778 zinc finger protein 778 1.28922
BTNL2 butyrophilin-like 2 1.27883
SEMA6D sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 1.26161
CENPBD1 CENPB DNA-binding domains containing 1 1.2335
LPP LIM domain containing preferred translocation partner in lipoma 1.09372
ATXN2 ataxin 2 1.01551
IRF4 interferon regulatory factor 4 1.00059
C1QTNF6 C1q and tumor necrosis factor related protein 6 0.942621
RNASET2 ribonuclease T2 0.927376
NTM neurotrimin 0.899912
RERE arginine-glutamic acid dipeptide (RE) repeats 0.777589
FBN1 fibrillin 1 0.77499
IKZF4 IKAROS family zinc finger 4 (Eos) 0.721836
IL2RA interleukin 2 receptor, alpha 0.701114
EIF6 eukaryotic translation initiation factor 6 0.700944
RPGRIP1L RPGRIP1-like 0.592283
UBASH3A ubiquitin associated and SH3 domain containing A 0.528237
NOTCH4 notch 4 0.503532
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 0.466039
TNXB tenascin XB 0.45739
AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1 0.442993
BNC2 basonuclin 2 0.44048
EGFL8 EGF-like-domain, multiple 8 0.43753
DDX39B DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B 0.437165
RNF5 ring finger protein 5, E3 ubiquitin protein ligase 0.436377
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2 0.416272
GTF2H4 general transcription factor IIH, polypeptide 4, 52kDa 0.415658
CCHCR1 coiled-coil alpha-helical rod protein 1 0.415528
ATAT1 alpha tubulin acetyltransferase 1 0.410414
DPCR1 diffuse panbronchiolitis critical region 1 0.410113
GZMB granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) 0.40996
POU5F1 POU class 5 homeobox 1 0.408751
HCG22 HLA complex group 22 0.408182
PSORS1C3 psoriasis susceptibility 1 candidate 3 (non-protein coding) 0.40736
TRIM15 tripartite motif containing 15 0.406089
TRIM31 tripartite motif containing 31 0.405936
TG thyroglobulin 0.403699
BACH2 BTB and CNC homology 1, basic leucine zipper transcription factor 2 0.401639
CASP7 caspase 7, apoptosis-related cysteine peptidase 0.400092
TRIM26 tripartite motif containing 26 0.399754
NEU1 sialidase 1 (lysosomal sialidase) 0.399716
FOXP1 forkhead box P1 0.399103
SMOC2 SPARC related modular calcium binding 2 0.395473
TICAM1 toll-like receptor adaptor molecule 1 0.395473
APOE apolipoprotein E 0.390809
ZMIZ1 zinc finger, MIZ-type containing 1 0.378502
NXPH1 neurexophilin 1 0.367809
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1 0.367064
NEK6 NIMA-related kinase 6 0.364442
SH2B3 SH2B adaptor protein 3 0.364359
ICA1 islet cell autoantigen 1, 69kDa 0.363232
TOMM40 translocase of outer mitochondrial membrane 40 homolog (yeast) 0.361886
UBE2E2 ubiquitin-conjugating enzyme E2E 2 0.35746
CNTN4 contactin 4 0.352106
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator 0.351235
CIB4 calcium and integrin binding family member 4 0.348076
ST3GAL1 ST3 beta-galactoside alpha-2,3-sialyltransferase 1 0.347074
SRBD1 S1 RNA binding domain 1 0.345582
DOK6 docking protein 6 0.344146
PHLDB2 pleckstrin homology-like domain, family B, member 2 0.340787
GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 1 0.340525
DSC3 desmocollin 3 0.339188
CLYBL citrate lyase beta like 0.337608
PRH1-PRR4 PRH1-PRR4 readthrough 0.335999
SORCS1 sortilin-related VPS10 domain containing receptor 1 0.33538
DOCK4 dedicator of cytokinesis 4 0.334917
GHSR growth hormone secretagogue receptor 0.333122
CSMD1 CUB and Sushi multiple domains 1 0.332015
FAM69C family with sequence similarity 69, member C 0.331808
NCS1 neuronal calcium sensor 1 0.328883
IFIH1 interferon induced with helicase C domain 1 0.317856
ZNRD1-AS1 ZNRD1 antisense RNA 1 0.315472