Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.500 GeneticVariation disease 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
0.500 GeneticVariation disease CLINVAR Molecular basis of hereditary cardiomyopathy: abnormalities in calcium sensitivity, stretch response, stress response and beyond. 20075948 2010
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.500 GeneticVariation disease CLINVAR Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337 2014
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.500 GeneticVariation disease CLINVAR Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. 24793961 2014
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.500 GeneticVariation disease CLINVAR Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage. 29121657 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.500 GeneticVariation disease CLINVAR Sarcomeric hypertrophic cardiomyopathy: genetic profile in a Portuguese population. 22857948 2012
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.500 GeneticVariation disease CLINVAR Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy. 25031304 2014
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.500 GeneticVariation disease BEFREE We used TALEN-mediated genome editing and successfully introduced the HCM-point mutation R723G into the MYH7 gene of porcine fibroblasts and subsequently cloned pigs that were heterozygous for the HCM-mutation R723G. 29555974 2018
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.500 GeneticVariation disease 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
0.500 GeneticVariation disease CLINVAR Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations. 21835320 2011
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.500 GeneticVariation disease CLINVAR Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 12974739 2003
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.500 GeneticVariation disease CLINVAR A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy. 16858239 2006
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.500 GeneticVariation disease CLINVAR Identification of Medically Actionable Secondary Findings in the 1000 Genomes. 26332594 2015
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.500 GeneticVariation disease BEFREE Since no linkage between MYH7 mutation and HCM with WPW syndrome has been reported to date, we cannot conclude whether the observed mutation is a common cause for both diseases, or this patient presents an incidental co-occurrence of HCM (caused by MYH7 mutation) and WPW syndrome. 17495353 2007
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.500 GeneticVariation disease BEFREE We studied 82 probands with HCM in whom no mutations had been found in MYH7 exons encoding the head and neck regions of myosin nor in the other frequently implicated disease genes. 11861413 2002
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.500 GeneticVariation disease BEFREE Mutations in the cardiac beta -myosin heavy chain gene (MYH7), and other genes encoding cardiac sarcomere proteins may cause familial hypertrophic cardiomyopathy (F-HCM), an autosomal dominant disease, characterized by myocardial hypertrophy. 10329202 1999
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.500 GeneticVariation disease CLINVAR A myosin missense mutation, not a null allele, causes familial hypertrophic cardiomyopathy. 7796500 1995
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.500 GeneticVariation disease CLINVAR Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. 15856146 2005
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.500 GeneticVariation disease 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
0.500 GeneticVariation disease CLINVAR Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy. 23674513 2013
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.500 GeneticVariation disease CLINVAR Patterns of disease progression in hypertrophic cardiomyopathy: an individualized approach to clinical staging. 22811549 2012
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.500 GeneticVariation disease 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
0.500 GeneticVariation disease CLINVAR Mutation spectrum in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy. 23711808 2013
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.500 GeneticVariation disease BEFREE Exome sequencing identifies a novel MYH7 p.G407C mutation responsible for familial hypertrophic cardiomyopathy. 24963656 2014
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.500 GeneticVariation disease CLINVAR Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy. 24093860 2013