Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 GeneticVariation UNIPROT Hypertrophic cardiomyopathy: a new mutation illustrates the need for family-centered care. 25182012

2014
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 GeneticVariation UNIPROT Shared genetic causes of cardiac hypertrophy in children and adults. 18403758

2008
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 GeneticVariation UNIPROT Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations. 18175163

2008
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 GeneticVariation UNIPROT Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy. 17372140

2007
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 GeneticVariation UNIPROT Genotype-phenotype correlation of R870H mutation in hypertrophic cardiomyopathy. 16650083

2006
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 GeneticVariation UNIPROT [Hypertrophic cardiomyopathy: infrequent mutation of the cardiac beta-myosin heavy-chain gene]. 16938236

2006
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 GeneticVariation UNIPROT Crystal structures of human cardiac beta-myosin II S2-Delta provide insight into the functional role of the S2 subfragment. 17095604

2006
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 GeneticVariation UNIPROT Gene mutations in apical hypertrophic cardiomyopathy. 16267253

2005
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 GeneticVariation UNIPROT Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease. 15858117

2005
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 GeneticVariation UNIPROT One third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations [corrected] in MYH7 rod region. 15483641

2005
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 GeneticVariation UNIPROT Mutations profile in Chinese patients with hypertrophic cardiomyopathy. 15563892

2005
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 GeneticVariation UNIPROT Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. 15856146

2005
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 GeneticVariation UNIPROT Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. 16199542

2005
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 GeneticVariation UNIPROT Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. 15358028

2004
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 GeneticVariation UNIPROT Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations. 12566107

2003
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 GeneticVariation UNIPROT "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
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 GeneticVariation UNIPROT Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden. 12818575

2003
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 GeneticVariation UNIPROT Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis. 12975413

2003
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 GeneticVariation UNIPROT Three novel mutations in exon 21 encoding beta-cardiac myosin heavy chain. 12590187

2003
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 GeneticVariation UNIPROT Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations. 12820698

2003
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 GeneticVariation UNIPROT 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
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 GeneticVariation UNIPROT Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 12974739

2003
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 GeneticVariation UNIPROT Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy. 11861413

2002
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 GeneticVariation UNIPROT Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy. 12081993

2002
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 GeneticVariation UNIPROT Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy. 11968089

2002