abnormality of skin adnexa Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. (Human Phenotype Ontology, HP_0011138)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0011138
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Genes

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

Symbol Name Standardized Value
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) 2.61937
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 2.60125
IRF4 interferon regulatory factor 4 2.24269
CDK10 cyclin-dependent kinase 10 1.887
FANCA Fanconi anemia, complementation group A 1.86712
OCA2 oculocutaneous albinism II 1.80314
AR androgen receptor 1.67734
AFG3L1P AFG3-like AAA ATPase 1, pseudogene 1.66848
EDA2R ectodysplasin A2 receptor 1.46964
DPEP1 dipeptidase 1 (renal) 1.4092
SPATA33 spermatogenesis associated 33 1.35455
ZNF276 zinc finger protein 276 1.34658
OPHN1 oligophrenin 1 1.10761
TCHH trichohyalin 1.0599
SPIRE2 spire-type actin nucleation factor 2 1.03693
TPCN2 two pore segment channel 2 1.0264
HEPH hephaestin 1.00095
PRDM7 PR domain containing 7 0.827983
ANKRD11 ankyrin repeat domain 11 0.788986
CHMP1A charged multivesicular body protein 1A 0.673563
DEF8 differentially expressed in FDCP 8 homolog (mouse) 0.632029
DBNDD1 dysbindin (dystrobrevin binding protein 1) domain containing 1 0.531724
SLC45A2 solute carrier family 45, member 2 0.481431
CDK5RAP1 CDK5 regulatory subunit associated protein 1 0.418924
EXOC2 exocyst complex component 2 0.408394
SPATA2L spermatogenesis associated 2-like 0.406383
CPNE7 copine VII 0.404326
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive) 0.400217
HDAC9 histone deacetylase 9 0.397617
IL2RA interleukin 2 receptor, alpha 0.395108
TUBB3 tubulin, beta 3 class III 0.388965
C1ORF127 chromosome 1 open reading frame 127 0.377086
C6ORF10 chromosome 6 open reading frame 10 0.372674
FLG-AS1 FLG antisense RNA 1 0.371513
SPPL2C signal peptide peptidase like 2C 0.368203
GAS8 growth arrest-specific 8 0.367529
SLC14A2 solute carrier family 14 (urea transporter), member 2 0.358676
SLC16A12 solute carrier family 16, member 12 0.358158
SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 0.35753
ZNF778 zinc finger protein 778 0.356496
MAPT microtubule-associated protein tau 0.353866
MAPT-AS1 MAPT antisense RNA 1 0.349943
CENPBD1 CENPB DNA-binding domains containing 1 0.349566
KANSL1 KAT8 regulatory NSL complex subunit 1 0.346283
LOC100288310 uncharacterized LOC100288310 0.34248
CRHR1 corticotropin releasing hormone receptor 1 0.341503
FRAS1 Fraser extracellular matrix complex subunit 1 0.338997
THADA thyroid adenoma associated 0.336547
MALRD1 MAM and LDL receptor class A domain containing 1 0.334448
KIRREL3 kin of IRRE like 3 (Drosophila) 0.326183
STX17 syntaxin 17 0.326183
WNT10A wingless-type MMTV integration site family, member 10A 0.318077
ITK IL2-inducible T-cell kinase 0.311084
ST8SIA5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 0.310658
NTM neurotrimin 0.309661
APOLD1 apolipoprotein L domain containing 1 0.309379
ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 0.308491
EPAS1 endothelial PAS domain protein 1 0.303817
CPVL carboxypeptidase, vitellogenic-like 0.301615
MICA MHC class I polypeptide-related sequence A 0.300059
DPCR1 diffuse panbronchiolitis critical region 1 0.299911
IQSEC3 IQ motif and Sec7 domain 3 0.299667
ZNF217 zinc finger protein 217 0.298649
TSHR thyroid stimulating hormone receptor 0.298516
OPCML opioid binding protein/cell adhesion molecule-like 0.297998
ALPK1 alpha-kinase 1 0.297298
BTNL2 butyrophilin-like 2 0.297079
ZNF407 zinc finger protein 407 0.296186
EHMT2 euchromatic histone-lysine N-methyltransferase 2 0.293982
ACOX1 acyl-CoA oxidase 1, palmitoyl 0.293364
STARD13 StAR-related lipid transfer (START) domain containing 13 0.292973
UNC5C unc-5 homolog C (C. elegans) 0.291841
THSD4 thrombospondin, type I, domain containing 4 0.289129
DCBLD1 discoidin, CUB and LCCL domain containing 1 0.288614
MBNL2 muscleblind-like splicing regulator 2 0.286908
FNDC3B fibronectin type III domain containing 3B 0.281713
SERPINB8 serpin peptidase inhibitor, clade B (ovalbumin), member 8 0.280164
ST3GAL1 ST3 beta-galactoside alpha-2,3-sialyltransferase 1 0.279769
SPATA5 spermatogenesis associated 5 0.277881
ALAD aminolevulinate dehydratase 0.277156
ACAP2 ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 0.276781
CSMD1 CUB and Sushi multiple domains 1 0.276158
PHLDB2 pleckstrin homology-like domain, family B, member 2 0.274895
ZBTB16 zinc finger and BTB domain containing 16 0.273145
ITSN2 intersectin 2 0.2725
EPB41L4A erythrocyte membrane protein band 4.1 like 4A 0.271147
TMEM215 transmembrane protein 215 0.268831
SGK1 serum/glucocorticoid regulated kinase 1 0.267115
THRB thyroid hormone receptor, beta 0.265996
LGALS14 lectin, galactoside-binding, soluble, 14 0.265793
ZNF677 zinc finger protein 677 0.260101
UBE2E2 ubiquitin-conjugating enzyme E2E 2 0.25992