Disease Annotation

Gene Info

  • Species:Human (Homo sapiens)
  • GeneID:8924
  • Symbol:HERC2
  • Description:HECT and RLD domain containing E3 ubiquitin protein ligase 2

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Disease_Term Source Rank Other Values
Mental retardation, autosomal recessive 38, 615516 (3) OMIM high
  • Genome region :15q13.1
  • OMIM_ID :605837OMIM gene ID
  • OMIM_ID :615516OMIM phenotype ID
[Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3) OMIM high
  • Genome region :15q12-q13
  • Genome region :15q13.1
  • OMIM_ID :227220OMIM phenotype ID
  • OMIM_ID :605837OMIM gene ID
  • OMIM_ID :611409OMIM gene ID
[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3) OMIM high
  • Genome region :15q12-q13
  • Genome region :15q13.1
  • OMIM_ID :227220OMIM phenotype ID
  • OMIM_ID :605837OMIM gene ID
  • OMIM_ID :611409OMIM gene ID
Tanning GWAS high
Brown vs. non-brown hair color GWAS high
Skin colour saturation GWAS high
Hair color GWAS high
Black vs. blond hair color GWAS high
Vitiligo GWAS high
Diisocyanate-induced asthma GWAS high
Skin sensitivity to sun GWAS high
Iris color GWAS high
Black vs. red hair color GWAS high
Eye color GWAS high
Squamous cell carcinoma GWAS high
Light vs. dark hair color GWAS high
Blond vs non-blond hair color GWAS high
Perceived skin darkness GWAS high
Eye color traits GWAS high