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 		0.100 GeneticVariation phenotype CLINVAR Review of Cardiac Disease in Nemaline Myopathy. 26507755 2015
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.100 GeneticVariation phenotype CLINVAR Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature. 25890230 2015
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.100 CausalMutation phenotype CLINVAR Review of Cardiac Disease in Nemaline Myopathy. 26507755 2015
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.100 CausalMutation phenotype CLINVAR Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature. 25890230 2015
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.100 GeneticVariation phenotype CLINVAR Nemaline myopathy with dilated cardiomyopathy in childhood. 23650303 2013
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.100 CausalMutation phenotype CLINVAR Nemaline myopathy with dilated cardiomyopathy in childhood. 23650303 2013
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.100 GeneticVariation phenotype CLINVAR Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). 19562689 2009
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.100 CausalMutation phenotype CLINVAR Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). 19562689 2009
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.100 GeneticVariation phenotype CLINVAR Variable presentation of nemaline myopathy: novel mutation of alpha actin gene. 16967490 2007
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.100 CausalMutation phenotype CLINVAR Variable presentation of nemaline myopathy: novel mutation of alpha actin gene. 16967490 2007
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.100 GeneticVariation phenotype CLINVAR Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. 15236405 2004
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.100 GeneticVariation phenotype CLINVAR Actin mutations are one cause of congenital fibre type disproportion. 15468086 2004
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.100 CausalMutation phenotype CLINVAR Actin mutations are one cause of congenital fibre type disproportion. 15468086 2004
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.100 CausalMutation phenotype CLINVAR Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. 15236405 2004
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.100 GeneticVariation phenotype CLINVAR Clinical course correlates poorly with muscle pathology in nemaline myopathy. 12601110 2003
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.100 CausalMutation phenotype CLINVAR Clinical course correlates poorly with muscle pathology in nemaline myopathy. 12601110 2003
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.100 CausalMutation phenotype CLINVAR Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene. 11333380 2001
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.100 GeneticVariation phenotype CLINVAR Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene. 11333380 2001
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.100 Biomarker phenotype HPO