Disease Annotation

Gene Info

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

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