CAVIN4, caveolae associated protein 4, 347273

N. diseases: 10; N. variants: 3
Disease: Cardiomyopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.010 GeneticVariation group BEFREE In addition, we identified a first potential mechanism by which the R140W mutation of MURC may contribute to calcium mishandling and the development of cardiomyopathies. 30951783 2019