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 [The genotype-phenotype correlation of the MYH7 gene c.1273G > a mutation in familial hypertrophic cardiomyopathy]. 19586842 2009
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR [The genotype-phenotype correlation of MYH7 gene G15391A mutation and MYBPC3 gene G12101A mutation in familial hypertrophic cardiomyopathy]. 19134269 2008
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR [Myosin storage myopathy: a rare subtype of protein aggregate myopathies]. 20376763 2010
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease CLINVAR [Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy]. 19150014 2009
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR [Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy]. 19150014 2009
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR [Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in beta-myosin heavy chain gene in a Chinese pedigree]. 16630450 2006
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease CLINVAR [Hypertrophic cardiomyopathy: infrequent mutation of the cardiac beta-myosin heavy-chain gene]. 16938236 2006
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR [Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy]. 17125710 2006
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR [Analysis of MYH7, MYBPC3 and TNNT2 gene mutations in 10 Chinese pedigrees with familial hypertrophic cardiomyopathy and the correlation between genotype and phenotype]. 16630449 2006
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease CLINVAR Z-band alternatively spliced PDZ motif protein (ZASP) is the major O-linked β-N-acetylglucosamine-substituted protein in human heart myofibrils. 23271734 2013
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease CLINVAR Worse prognosis with gene mutations of beta-myosin heavy chain than myosin-binding protein C in Chinese patients with hypertrophic cardiomyopathy. 18383048 2008
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR We previously described cross-sectional family studies of two hypertrophic cardiomyopathy (HCM)-causing mutations, R92W(TNNT2) and R403W(MYH7), both associated with minimal hypertrophy, but with widely different life expectancies. 17612745 2008
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR Variability in the ratio of mutant to wildtype myosin heavy chain present in the soleus muscle of patients with familial hypertrophic cardiomyopathy. A new approach for the quantification of mutant to wildtype protein. 10567705 1999
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease CLINVAR Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome. 28449774 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR 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 		0.800 GeneticVariation disease CLINVAR 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 		0.800 GeneticVariation disease CLINVAR Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death. 26187847 2015
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease CLINVAR Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy. 21302287 2011
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy. 21769673 2011
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 CausalMutation 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 CausalMutation disease CLINVAR Troponin T and beta-myosin mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy. 18029407 2008
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease 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 		0.800 CausalMutation disease CLINVAR The Val606Met mutation in the cardiac beta-myosin heavy chain gene in patients with familial hypertrophic cardiomyopathy is associated with a high risk of sudden death at young age. 11377367 2001
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR The second kindred with autosomal dominant distal myopathy linked to chromosome 14q: genetic and clinical analysis. 12975303 2003