Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		0.930 CausalMutation CLINVAR Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic. 27447704

2017
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		0.930 GeneticVariation CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218

2016
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		0.930 GeneticVariation CLINVAR Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations. 26172852

2016
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		0.930 CausalMutation CLINVAR Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations. 26172852

2016
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		0.930 GeneticVariation CLINVAR Structure of the F-actin-tropomyosin complex. 25470062

2015
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		0.930 CausalMutation CLINVAR Hypoxic ischemic encephalopathy in a case of intranuclear rod myopathy without any prenatal sentinel event. 24787270

2015
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		0.930 GeneticVariation CLINVAR Congenital fiber type disproportion myopathy caused by LMNA mutations. 24642510

2014
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		0.930 CausalMutation 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
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		0.930 GeneticVariation CLINVAR MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples. 25214167

2014
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		0.930 CausalMutation CLINVAR Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. 23394784

2013
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		0.930 GeneticVariation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		0.930 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		0.930 CausalMutation CLINVAR Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1. 20303757

2010
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		0.930 CausalMutation 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
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		0.930 GeneticVariation 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
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		0.930 CausalMutation CLINVAR Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1). 16945536

2006
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		0.930 CausalMutation CLINVAR Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. 15236405

2004
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		0.930 GeneticVariation CLINVAR Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects. 15226407

2004
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		0.930 CausalMutation CLINVAR Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). 12921789

2003
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		0.930 CausalMutation CLINVAR Cognitive expectations, not habits, control anticipatory smooth oculomotor pursuit. 2617852

1989
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		0.930 CausalMutation CLINVAR Diffusion of fluorescein-labelled molecules in suspensions of erythrocyte ghosts. 2462510

1988
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.740 CausalMutation CLINVAR

Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C4225181
Disease: MYOPATHY, SCAPULOHUMEROPERONEAL
MYOPATHY, SCAPULOHUMEROPERONEAL 		0.700 CausalMutation CLINVAR

Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C1834339
Disease: Myopathy, Actin, Congenital, with Excess of Thin Myofilaments
Myopathy, Actin, Congenital, with Excess of Thin Myofilaments 		0.600 CausalMutation CLINVAR

Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C2750537
Disease: Myopathy, Actin, Congenital, With Cores
Myopathy, Actin, Congenital, With Cores 		0.600 CausalMutation CLINVAR