Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.530 Biomarker CLINGEN Nemaline myopathy and non-fatal hypertrophic cardiomyopathy caused by a novel ACTA1 E239K mutation. 21570694

2011
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.530 Biomarker CLINGEN This is the first report on a hypertrophic cardiomyopathy associated with nemaline myopathy and an ACTA1 mutation. 16945537

2006
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.530 Biomarker CLINGEN Missense mutations of ACTA1 cause dominant congenital myopathy with cores. 15520409

2004