Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.930 CausalMutation disease CLINVAR Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. 15236405 2004
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.930 Biomarker disease GENOMICS_ENGLAND Congenital myotonic dystrophy can show congenital fiber type disproportion pathology. 20179953 2010
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.930 GeneticVariation disease BEFREE The mechanisms by which mutations in ACTA1 contribute to muscle weakness in NEM3 are incompletely understood. 29328520 2018
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.930 GeneticVariation disease UNIPROT Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene. 11333380 2001
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.930 GermlineCausalMutation disease ORPHANET Here we report that mutations in the human skeletal muscle alpha-actin gene (ACTA1) are associated with two different muscle diseases, 'congenital myopathy with excess of thin myofilaments' (actin myopathy) and nemaline myopathy. 10508519 1999
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.930 CausalMutation disease CLINVAR ACTA1 mutations result in five overlapping congenital myopathies: nemaline myopathy; intranuclear rod myopathy; actin filament aggregate myopathy; congenital fiber type disproportion; and myopathy with core-like areas. 19562689 2009
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.930 Biomarker disease GENOMICS_ENGLAND ACTA1 mutations result in five overlapping congenital myopathies: nemaline myopathy; intranuclear rod myopathy; actin filament aggregate myopathy; congenital fiber type disproportion; and myopathy with core-like areas. 19562689 2009
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.930 GeneticVariation disease CLINVAR Structure of the F-actin-tropomyosin complex. 25470062 2015
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.930 GeneticVariation disease CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218 2016
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.930 GeneticVariation disease UNIPROT Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness. 17705262 2007
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.930 CausalMutation disease CLINVAR Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1. 20303757 2010
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.930 CausalMutation disease CLINVAR Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). 12921789 2003
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.930 GeneticVariation disease UNIPROT Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1). 15336687 2004
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.930 GeneticVariation disease CLINVAR Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations. 26172852 2016
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.930 Biomarker disease CTD_human
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.930 GeneticVariation disease UNIPROT Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. 15236405 2004
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.930 GeneticVariation disease CLINVAR Congenital fiber type disproportion myopathy caused by LMNA mutations. 24642510 2014
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.930 GeneticVariation disease UNIPROT Here we report that mutations in the human skeletal muscle alpha-actin gene (ACTA1) are associated with two different muscle diseases, 'congenital myopathy with excess of thin myofilaments' (actin myopathy) and nemaline myopathy. 10508519 1999
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.930 CausalMutation disease CLINVAR Diffusion of fluorescein-labelled molecules in suspensions of erythrocyte ghosts. 2462510 1988
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.930 Biomarker disease GENOMICS_ENGLAND Here we report that mutations in the human skeletal muscle alpha-actin gene (ACTA1) are associated with two different muscle diseases, 'congenital myopathy with excess of thin myofilaments' (actin myopathy) and nemaline myopathy. 10508519 1999
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.930 Biomarker disease GENOMICS_ENGLAND Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. 30266093 2018
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.930 CausalMutation disease CLINVAR Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy. 24852243 2014
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.930 GeneticVariation disease UNIPROT Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family. 25938801 2015
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.930 Biomarker disease GENOMICS_ENGLAND Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation. 16945537 2006
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.930 Biomarker disease MGD Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy. 22067542 2011