Disease Annotation

Gene Info

  • Species:Human (Homo sapiens)
  • GeneID:59
  • Symbol:ACTA2
  • Description:actin alpha 2, smooth muscle

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Disease_Term Source Rank Other Values
Moyamoya disease 5, 614042 (3) OMIM high
  • Genome region :10q23.31
  • OMIM_ID :102620OMIM gene ID
  • OMIM_ID :614042OMIM phenotype ID
Aortic aneurysm, familial thoracic 6, 611788 (3) OMIM high
  • Genome region :10q23.31
  • OMIM_ID :102620OMIM gene ID
  • OMIM_ID :611788OMIM phenotype ID
Multisystemic smooth muscle dysfunction syndrome, 613834 (3) OMIM high
  • Genome region :10q23.31
  • OMIM_ID :102620OMIM gene ID
  • OMIM_ID :613834OMIM phenotype ID
Chronic lymphocytic leukemia GWAS high
Immunoglobulin A GWAS high