Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation CLINVAR Mutations profile in Chinese patients with hypertrophic cardiomyopathy. 15563892

2005
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation CLINVAR Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337

2014
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation CLINVAR Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region. 11606294

2001
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation CLINVAR Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells. 23290139

2013
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation CLINVAR Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. 18533079

2008
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation CLINVAR Two novel mutations in the beta-myosin heavy chain gene associated with dilated cardiomyopathy. 15556047

2004
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation CLINVAR Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. 27247418

2016
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation CLINVAR A systematic approach to the reporting of medically relevant findings from whole genome sequencing. 25714468

2014
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation CLINVAR Rare variant mutations identified in pediatric patients with dilated cardiomyopathy. 21483645

2011
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation CLINVAR Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. 12860912

2003
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation CLINVAR Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 12974739

2003
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation 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: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation CLINVAR Implications of hypertrophic cardiomyopathy transmitted by sperm donation. 19843903

2009
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation CLINVAR Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy. 22112859

2012
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation CLINVAR Abnormal cardiac formation in hypertrophic cardiomyopathy: fractal analysis of trabeculae and preclinical gene expression. 24704860

2014
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation CLINVAR Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors. 21839045

2012