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 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 BEFREE Fetal akinesia caused by a novel actin filament aggregate myopathy skeletal muscle actin gene (ACTA1) mutation. 20621480 2010
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.930 GeneticVariation disease BEFREE 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: 60
Gene Symbol: ACTB
ACTB 		0.050 Biomarker disease BEFREE We further show that the milder phenotype results from a compensatory transcriptional upregulation of an actin paralogue providing a novel approach to be explored for the treatment of actin myopathy. 29420541 2018
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		0.050 GeneticVariation disease BEFREE Fetal akinesia caused by a novel actin filament aggregate myopathy skeletal muscle actin gene (ACTA1) mutation. 20621480 2010
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		0.050 GeneticVariation disease BEFREE Mutations in the skeletal muscle alpha-actin gene ( ACTA1) are associated by and large with three muscle diseases (1) congenital actin myopathy, (2) nemaline myopathy, and (3) intranuclear rod myopathy. 15221331 2004
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		0.050 GeneticVariation disease BEFREE The most dramatic example of this property is actin, mutations in which are associated with hypertrophic cardiomyopathy, dilated cardiomyopathy, nemaline myopathy and actin myopathy. 11563546 2001
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		0.050 Biomarker disease BEFREE Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. 10508519 1999
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 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 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 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 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 GeneticVariation disease CLINVAR Congenital fiber type disproportion myopathy caused by LMNA mutations. 24642510 2014
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 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 CausalMutation disease 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 		0.930 CausalMutation disease 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 		0.930 CausalMutation 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 GeneticVariation disease CLINVAR Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects. 15226407 2004
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.930 GeneticVariation 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 GeneticVariation disease CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333 2011
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.930 GeneticVariation disease CLINVAR MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples. 25214167 2014