MYBPC3, myosin binding protein C3, 4607

N. diseases: 100; N. variants: 418
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026848
Disease: Myopathy
Myopathy
0.120 GeneticVariation group BEFREE Mutations in MYBPC3 encoding cardiac myosin binding protein C are common genetic cause of hereditary cardiac myopathies. 21915287 2011
CUI: C0026848
Disease: Myopathy
Myopathy
0.120 GeneticVariation group BEFREE Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C. 19858127 2010
CUI: C0026848
Disease: Myopathy
Myopathy
0.120 Biomarker group HPO