Source: INFERRED

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 CausalMutation CLINVAR Clinical features, spectrum of causal genetic mutations and outcome of hypertrophic cardiomyopathy in South Africans. 27841901

2017

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 CausalMutation CLINVAR Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. 23396983

2013

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 CausalMutation CLINVAR Cardiac and skeletal muscle expression of mutant β-myosin heavy chains, degree of functional impairment and phenotypic heterogeneity in hypertrophic cardiomyopathy. 22213221

2012

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: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 CausalMutation CLINVAR "Prevalence and severity of ""benign"" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy." 12473556

2002

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 CausalMutation CLINVAR Impact of systolic dysfunction in genotyped hypertrophic cardiomyopathy. 23197398

2013

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 CausalMutation CLINVAR Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure. 10065021

1998

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 CausalMutation CLINVAR Functional analysis of myosin mutations that cause familial hypertrophic cardiomyopathy. 9826622

1998

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 CausalMutation CLINVAR Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. 20031618

2009

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 CausalMutation CLINVAR [Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy]. 17125710

2006

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 CausalMutation CLINVAR Gene symbol: MYH7. 17438619

2007

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 CausalMutation CLINVAR Transgenic mouse α- and β-cardiac myosins containing the R403Q mutation show isoform-dependent transient kinetic differences. 23580644

2013

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: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 CausalMutation CLINVAR Familial hypertrophic cardiomyopathy owing to double heterozygosity for a 403Arg--> Trp mutation in exon 13 of the MYH7 gene and a novel mutation, 453Arg--> His, in exon 14 of the MYH7 gene: A case report. 20428263

2001

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 CausalMutation CLINVAR A missense mutation in the beta-myosin heavy chain gene in a Japanese patient with hypertrophic cardiomyopathy. 8788376

1995

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 CausalMutation CLINVAR Genotype phenotype correlations of cardiac beta-myosin heavy chain mutations in Indian patients with hypertrophic and dilated cardiomyopathy. 18953637

2009

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 CausalMutation CLINVAR Biophysical properties of human β-cardiac myosin with converter mutations that cause hypertrophic cardiomyopathy. 28246639

2017

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 CausalMutation CLINVAR Missense mutation of the beta-cardiac myosin heavy-chain gene in hypertrophic cardiomyopathy. 8533830

1995

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 CausalMutation CLINVAR Quantification of mutant versus wild-type myosin in human muscle biopsies using nano-LC/ESI-MS. 18020371

2007

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 CausalMutation CLINVAR Characterization of mutant myosins of Dictyostelium discoideum equivalent to human familial hypertrophic cardiomyopathy mutants. Molecular force level of mutant myosins may have a prognostic implication. 9062359

1997

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 CausalMutation CLINVAR Hypertrophic cardiomyopathy associated with left ventricular noncompaction cardiomyopathy and coronary fistulae: a case report. One genotype, three phenotypes? 24268868

2013