Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 88
Gene Symbol: ACTN2
ACTN2 		actinin alpha 2 0.686 0.462 1.00
CUI: C2677338
Disease: Cardiomyopathy, Dilated, 1AA
Cardiomyopathy, Dilated, 1AA 		disease 0.700 strong 1.000 0 3 2004 2016
Entrez Id: 88
Gene Symbol: ACTN2
ACTN2 		actinin alpha 2 0.686 0.462 1.00
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.140 None 1.000 1 1 2006 2019
Entrez Id: 88
Gene Symbol: ACTN2
ACTN2 		actinin alpha 2 0.686 0.462 1.00
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group 0.120 None 1.000 1 1 2004 2019
Entrez Id: 88
Gene Symbol: ACTN2
ACTN2 		actinin alpha 2 0.686 0.462 1.00
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		disease 0.100 None 0 1