Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.400 Biomarker GENOMICS_ENGLAND Here we report that mutations in the human skeletal muscle alpha-actin gene (ACTA1) are associated with two different muscle diseases, 'congenital myopathy with excess of thin myofilaments' (actin myopathy) and nemaline myopathy. 10508519

1999