Source: CLINGEN

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: 70
Gene Symbol: ACTC1
ACTC1 		actin alpha cardiac muscle 1 0.610 0.538 0.74
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.700 definitive 0.962 11 0 1999 2019