Gene: MYH7 ×
Source: CLINVAR ×
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 "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 CausalMutation 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 CausalMutation disease 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 		0.800 CausalMutation disease CLINVAR β-Myosin heavy chain variant Val606Met causes very mild hypertrophic cardiomyopathy in mice, but exacerbates HCM phenotypes in mice carrying other HCM mutations. 24829265 2014
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy. 18409188 2008
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease CLINVAR A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy. 18409188 2008
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR A fetus with hypertrophic cardiomyopathy, restrictive, and single-ventricle physiology, and a beta-myosin heavy chain mutation. 20394946 2010
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes. 9544842 1998
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 CausalMutation disease CLINVAR A malignant phenotype of hypertrophic cardiomyopathy caused by Arg719Gln cardiac beta-myosin heavy-chain mutation in a Chinese family. 11498078 2001
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease 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 		0.800 CausalMutation disease CLINVAR A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. 1975517 1990
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 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 		0.800 CausalMutation disease CLINVAR A mouse model of familial hypertrophic cardiomyopathy. 8614836 1996
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR A myosin missense mutation, not a null allele, causes familial hypertrophic cardiomyopathy. 7796500 1995
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR A new common mutation in the cardiac beta-myosin heavy chain gene in Finnish patients with hypertrophic cardiomyopathy. 24888384 2014
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease CLINVAR A new common mutation in the cardiac beta-myosin heavy chain gene in Finnish patients with hypertrophic cardiomyopathy. 24888384 2014
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy. 7848441 1994
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease CLINVAR A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort. 27483260 2016
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease CLINVAR A novel cardiac myosin-binding protein C S297X mutation in hypertrophic cardiomyopathy. 20350521 2010
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR A novel mutation of the beta myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy. 19645038 2009
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR A p.R870H mutation in the beta-cardiac myosin heavy chain 7 gene causes familial hypertrophic cardiomyopathy in several members of an Indian family. 17703256 2007
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 A Variant Detection Pipeline for Inherited Cardiomyopathy-Associated Genes Using Next-Generation Sequencing. 25937619 2015
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR Abnormal blood pressure response to exercise occurs more frequently in hypertrophic cardiomyopathy patients with the R92W troponin T mutation than in those with myosin mutations. 19880069 2009