Gene: ACTA1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.530 Biomarker disease GENOMICS_ENGLAND Nemaline myopathy with dilated cardiomyopathy in childhood. 23650303 2013
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.530 GeneticVariation disease BEFREE This present report describes an infantile onset of nemaline myopathy with a milder clinical course and non-fatal HCM as compared with previous cases, showing clinical diversity in skeletal and cardiac manifestations of conditions associated with ACTA1 mutations. 21570694 2011
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.530 Biomarker disease CLINGEN Nemaline myopathy and non-fatal hypertrophic cardiomyopathy caused by a novel ACTA1 E239K mutation. 21570694 2011
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.530 Biomarker disease 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 		0.530 GeneticVariation disease BEFREE 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 		0.530 Biomarker disease GENOMICS_ENGLAND 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 		0.530 Biomarker disease CLINGEN Missense mutations of ACTA1 cause dominant congenital myopathy with cores. 15520409 2004
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.530 AlteredExpression disease BEFREE Expression levels of ACTA1, MLC2a and GNAS1 were increased in six additional and FHL1 in four additional hearts with HCM. 11583900 2001