ACTN2, actinin alpha 2, 88

N. diseases: 4; N. variants: 4
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2677338
Disease: Cardiomyopathy, Dilated, 1AA
Cardiomyopathy, Dilated, 1AA 		0.700 CausalMutation disease CLINVAR
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.140 CausalMutation disease CLINVAR Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis. 20022194 2010
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.120 CausalMutation group CLINVAR Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis. 20022194 2010
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.100 GeneticVariation disease CLINVAR