Disease Annotation

Gene Info

  • Species:Human (Homo sapiens)
  • GeneID:8925
  • Symbol:HERC1
  • Description:HECT and RLD domain containing E3 ubiquitin protein ligase family member 1

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Disease_Term Source Rank Other Values
Macrocephaly, dysmorphic facies, and psychomotor retardation, 617011 (3) OMIM high
  • Genome region :15q22.31
  • OMIM_ID :605109OMIM gene ID
  • OMIM_ID :617011OMIM phenotype ID
Iris characteristics GWAS high