ACTA1, actin alpha 1, skeletal muscle, 58

N. diseases: 217; N. variants: 59
Disease: Myopathy, Actin, Congenital, With Cores ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750537
Disease: Myopathy, Actin, Congenital, With Cores
Myopathy, Actin, Congenital, With Cores 		0.600 Biomarker disease MGD Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy. 22067542 2011
CUI: C2750537
Disease: Myopathy, Actin, Congenital, With Cores
Myopathy, Actin, Congenital, With Cores 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). 19562689 2009
CUI: C2750537
Disease: Myopathy, Actin, Congenital, With Cores
Myopathy, Actin, Congenital, With Cores 		0.600 CausalMutation disease CLINVAR