Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.800 GeneticVariation disease CLINVAR Mutations profile in Chinese patients with hypertrophic cardiomyopathy. 15563892 2005
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.800 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
0.800 GeneticVariation disease CLINVAR Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. 16352453 2006
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.800 GeneticVariation disease 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
0.800 GeneticVariation disease CLINVAR Two novel mutations in the beta-myosin heavy chain gene associated with dilated cardiomyopathy. 15556047 2004
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.800 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
0.800 GeneticVariation disease CLINVAR Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. 27247418 2016
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.800 GeneticVariation disease CLINVAR A systematic approach to the reporting of medically relevant findings from whole genome sequencing. 25714468 2014
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.800 GeneticVariation disease CLINVAR Rare variant mutations identified in pediatric patients with dilated cardiomyopathy. 21483645 2011
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.800 GeneticVariation disease CLINVAR Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. 25351510 2015
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.800 GeneticVariation disease CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239 2003
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.800 GeneticVariation disease CLINVAR Isometric tension and mutant myosin heavy chain content in single skeletal myofibers from hypertrophic cardiomyopathy patients. 9140824 1997
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.800 GeneticVariation disease CLINVAR Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure. 21750094 2011
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.800 GeneticVariation disease CLINVAR A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death. 23140321 2012
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.800 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
0.800 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
0.800 GeneticVariation disease CLINVAR Impact of renin-angiotensin system polymorphisms on development of systolic dysfunction in hypertrophic cardiomyopathy. Evidence from a study of genotyped patients. 20975235 2010
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.800 GeneticVariation disease CLINVAR Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes. 28606303 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.800 GeneticVariation disease CLINVAR Implications of hypertrophic cardiomyopathy transmitted by sperm donation. 19843903 2009
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.800 GeneticVariation disease CLINVAR Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy. 22112859 2012
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.800 GeneticVariation disease CLINVAR Abnormal cardiac formation in hypertrophic cardiomyopathy: fractal analysis of trabeculae and preclinical gene expression. 24704860 2014
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.800 GeneticVariation disease CLINVAR Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors. 21839045 2012
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.800 GeneticVariation disease CLINVAR Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy. 7731997 1995
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.800 GeneticVariation disease CLINVAR "Hypertrophic cardiomyopathy: two homozygous cases with ""typical"" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy." 12951062 2003
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.800 GeneticVariation disease CLINVAR Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. 24793961 2014