Disease Annotation

Gene Info

  • Species:Human (Homo sapiens)
  • GeneID:57531
  • Symbol:HACE1
  • Description:HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1

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Disease_Term Source Rank Other Values
Spastic paraplegia and psychomotor retardation with or without seizures, 616756 (3) OMIM high
  • Genome region :6q16.3
  • OMIM_ID :610876OMIM gene ID
  • OMIM_ID :616756OMIM phenotype ID
Multiple sclerosis GWAS high
Thyroid stimulating hormone GWAS high
Epilepsy and lamotrigine-induced maculopapular eruptions GWAS high
Neuroblastoma GWAS high
Height GWAS high
Obsessive-compulsive disorder GWAS high
Menarche (age at onset) GWAS high