Disease Annotation

Gene Info

  • Species:Human (Homo sapiens)
  • GeneID:58
  • Symbol:ACTA1
  • Description:actin alpha 1, skeletal muscle

Marrvel Logo and Link

Export (tab separated) Export to Excel

Disease_Term Source Rank Other Values
Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3) OMIM high
  • Genome region :1q42.13
  • OMIM_ID :102610OMIM gene ID
  • OMIM_ID :161800OMIM phenotype ID
?Myopathy, scapulohumeroperoneal, 616852 (3) OMIM high
  • Genome region :1q42.13
  • OMIM_ID :102610OMIM gene ID
  • OMIM_ID :616852OMIM phenotype ID
Myopathy, congenital, with fiber-type disproportion 1, 255310 (3) OMIM high
  • Genome region :1q42.13
  • OMIM_ID :102610OMIM gene ID
  • OMIM_ID :255310OMIM phenotype ID
Nemaline myopathy 3, autosomal dominant or recessive, 161800 (3) OMIM high
  • Genome region :1q42.13
  • OMIM_ID :102610OMIM gene ID
  • OMIM_ID :161800OMIM phenotype ID
Myopathy, actin, congenital, with cores, 161800 (3) OMIM high
  • Genome region :1q42.13
  • OMIM_ID :102610OMIM gene ID
  • OMIM_ID :161800OMIM phenotype ID
Chronic lymphocytic leukemia GWAS high