Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.020 Biomarker disease BEFREE Mutations in the actin binding protein CAP2 can cause DCM and KO mice, either whole body (CAP2-KO) or cardiomyocyte-specific KOs (CAP2-CKO) develop DCM with cardiac conduction disease. 30762586 2019
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.020 GeneticVariation disease BEFREE This is the first report of a recessive deleterious mutation in CAP2 and its association with DCM in humans. 30518548 2019