Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700 GeneticVariation CLINVAR Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. 27247418

2017

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700 Biomarker CLINGEN Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700 CausalMutation CLINVAR Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system. 27082122

2017

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700 CausalMutation CLINVAR Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. 27247418

2017

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700 CausalMutation CLINVAR Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 25611685

2016

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700 GeneticVariation CLINVAR Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 25611685

2016

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700 CausalMutation CLINVAR Hypertrophic cardiomyopathy associated with left ventricular noncompaction cardiomyopathy and coronary fistulae: a case report. One genotype, three phenotypes? 24268868

2016

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700 CausalMutation CLINVAR Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain. 25935763

2015

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700 GeneticVariation CLINVAR Detection of mutations in symptomatic patients with hypertrophic cardiomyopathy in Taiwan. 25086479

2015

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700 GeneticVariation UNIPROT Hypertrophic cardiomyopathy: a new mutation illustrates the need for family-centered care. 25182012

2015

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700 GeneticVariation CLINVAR Genetics of hypertrophic cardiomyopathy in Norway. 24111713

2015

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700 GeneticVariation CLINVAR Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337

2015

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700 CausalMutation CLINVAR A new common mutation in the cardiac beta-myosin heavy chain gene in Finnish patients with hypertrophic cardiomyopathy. 24888384

2015

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700 GeneticVariation CLINVAR Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain. 25935763

2015

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700 GeneticVariation CLINVAR Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing. 25342278

2015

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700 GeneticVariation CLINVAR Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. 25351510

2015

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700 CausalMutation CLINVAR Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy. 25132132

2015

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700 Biomarker CLINGEN Study familial hypertrophic cardiomyopathy using patient-specific induced pluripotent stem cells. 25209314

2015

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700 CausalMutation CLINVAR Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337

2015

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700 CausalMutation CLINVAR β-Myosin heavy chain variant Val606Met causes very mild hypertrophic cardiomyopathy in mice, but exacerbates HCM phenotypes in mice carrying other HCM mutations. 24829265

2014

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.700 CausalMutation CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399

2014