MYBPC3, myosin binding protein C3, 4607

N. diseases: 100; N. variants: 418
Disease: CARDIOMYOPATHY, INFANTILE HYPERTROPHIC ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2748884
Disease: CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC 		0.010 GeneticVariation disease BEFREE Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish. 18467358 2008