Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.800 GeneticVariation BEFREE A novel missense mutation in the MYH7 gene causes an uncharacteristic phenotype of myosin storage myopathy: a case report. 31068177

2019
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.800 GeneticVariation BEFREE The mutations of MYH7 (slow skeletal/β-cardiac myosin heavy chain) are commonly found in familial hypertrophic/dilated cardiomyopathy, and also can cause Laing early-onset distal myopathy (LDM), myosin storage myopathy (MSM), and congenital myopathy with fiber-type disproportion (CFTD). 29170849

2018
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.800 Biomarker GENOMICS_ENGLAND Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.800 GeneticVariation BEFREE Sanger sequencing excluded mutations in the MSM-associated gene MYH7 but identified mutations in TRIM63 and TRIM54, encoding MuRF1 and MuRF3, respectively. 25801283

2015
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.800 GeneticVariation BEFREE Although MYH7 mutation is also an established cause of variable cardiomyopathy with or without skeletal myopathy, cardiomyopathy with MSM is a rare combination. 25666907

2015
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.800 GeneticVariation BEFREE Laing early onset distal myopathy and myosin storage myopathy are caused by mutations of slow skeletal/β-cardiac myosin heavy chain encoded by the gene MYH7, as is a common form of familial hypertrophic/dilated cardiomyopathy. 24664454

2014
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.800 CausalMutation CLINVAR Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy. 25132132

2014
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.800 GeneticVariation BEFREE Myopathies with scapuloperoneal, distal or limb-girdle muscle weakness including entities, such as myosin storage myopathy and Laing distal myopathy are the result of usually dominant mutations in the gene for slow/β cardiac MyHC (MYH7). 22918376

2013
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.800 CausalMutation CLINVAR New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants. 23299917

2013
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.800 CausalMutation CLINVAR Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 23283745

2013
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.800 CausalMutation CLINVAR Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells. 23290139

2013
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.800 GeneticVariation BEFREE A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. 21288719

2011
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.800 Biomarker GENOMICS_ENGLAND The genetics of dilated cardiomyopathy. 20186049

2010
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.800 GeneticVariation BEFREE Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation. 19138847

2009
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.800 GeneticVariation BEFREE Mutations in the myosin heavy chain gene (MYH7) can cause several distinct phenotypes depending on the location of the mutation: hypertrophic cardiomyopathy (several exons), myosin storage myopathy (exon 37/39) or Laing distal myopathy (exons 32-36). 17383184

2007
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.800 GeneticVariation BEFREE MYH7 gene studies revealed the 5533C>T mutation (Arg1845Trp) in both myosin storage myopathy and in 2 of the 17 scapulo-peroneal patients studied. 17336526

2007
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.800 GeneticVariation UNIPROT MYH7 gene studies revealed the 5533C>T mutation (Arg1845Trp) in both myosin storage myopathy and in 2 of the 17 scapulo-peroneal patients studied. 17336526

2007
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.800 GeneticVariation BEFREE Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred. 16684601

2006
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.800 GeneticVariation UNIPROT Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred. 16684601

2006
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.800 GeneticVariation BEFREE Mutations recently were identified in the type 1 muscle fiber myosin gene (MYH7) in Swedish and Saudi families with myosin storage myopathy. 15699387

2005
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.800 GeneticVariation UNIPROT Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy. 15136674

2004
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.800 GeneticVariation BEFREE One candidate gene in the region, MYH7, which is mutated in cardiomyopathy and myosin storage myopathy, codes for the myosin heavy chain of type I skeletal muscle fibers and cardiac ventricles. 15322983

2004
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.800 GeneticVariation UNIPROT Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. 14520662

2003
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.800 GeneticVariation BEFREE Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. 14520662

2003
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		0.800 CausalMutation CLINVAR Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation. 10750581

1999