ACTA1, actin alpha 1, skeletal muscle, 58

N. diseases: 217; N. variants: 59
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270969
Disease: Zebra body myopathy
Zebra body myopathy
0.310 GeneticVariation disease BEFREE Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1). 25747004 2015
CUI: C0270969
Disease: Zebra body myopathy
Zebra body myopathy
0.310 GermlineCausalMutation disease ORPHANET Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1). 25747004 2015