Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 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 Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic. 27447704 2017
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 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 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 Structure of the F-actin-tropomyosin complex. 25470062 2015
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 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 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 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 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 		0.930 GeneticVariation disease UNIPROT Nemaline myopathy with dilated cardiomyopathy in childhood. 23650303 2013
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.930 CausalMutation disease 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 		0.930 GeneticVariation disease UNIPROT Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation. 22442437 2012
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
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 CausalMutation disease CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333 2011
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 CausalMutation disease CLINVAR Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1. 20303757 2010