MYBPC3, myosin binding protein C3, 4607

N. diseases: 100; N. variants: 418
Disease: Ventricular hypertrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0340279
Disease: Ventricular hypertrophy
Ventricular hypertrophy 		0.120 Biomarker disease BEFREE Zebrafish with genetic knockdown of mybpc3 by morpholino showed ventricular hypertrophy with increased myocardial wall thickness and diastolic heart failure, manifesting as decreased ventricular diastolic relaxation velocity, pericardial effusion, and dilatation of the atrium. 24047589 2013
CUI: C0340279
Disease: Ventricular hypertrophy
Ventricular hypertrophy 		0.120 GeneticVariation disease BEFREE In adults (n = 33) bearing a splice acceptor site mutation in the MyBP-C gene, penetrance of familial hypertrophic cardiomyopathy was incomplete (69%) and ventricular hypertrophy mild. 9503187 1998
CUI: C0340279
Disease: Ventricular hypertrophy
Ventricular hypertrophy 		0.120 Biomarker disease HPO