rs36211715, MYH7

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation UNIPROT Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239 2003
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation UNIPROT American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. 14607462 2003
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation UNIPROT Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden. 12818575 2003
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation UNIPROT Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations. 12566107 2003
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation UNIPROT Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 12974739 2003
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation UNIPROT Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis. 12975413 2003
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation UNIPROT "Hypertrophic cardiomyopathy: two homozygous cases with ""typical"" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy." 12951062 2003
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.720 CausalMutation CLINVAR Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 12974739 2003
Cardiomyopathy, Hypertrophic, Familial
0.710 CausalMutation CLINVAR Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 12974739 2003
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation UNIPROT Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. 15358028 2004
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 GeneticVariation UNIPROT Gene mutations in apical hypertrophic cardiomyopathy. 16267253 2005
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 CausalMutation CLINVAR [Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy]. 17125710 2006
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 CausalMutation CLINVAR Genotype-phenotype correlation of R870H mutation in hypertrophic cardiomyopathy. 16650083 2006
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.720 CausalMutation CLINVAR Genotype-phenotype correlation of R870H mutation in hypertrophic cardiomyopathy. 16650083 2006
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.720 CausalMutation CLINVAR [Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy]. 17125710 2006
Cardiomyopathy, Hypertrophic, Familial
0.710 CausalMutation CLINVAR [Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy]. 17125710 2006
Cardiomyopathy, Hypertrophic, Familial
0.710 CausalMutation CLINVAR Genotype-phenotype correlation of R870H mutation in hypertrophic cardiomyopathy. 16650083 2006
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 CausalMutation 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
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.720 CausalMutation 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
Cardiomyopathy, Hypertrophic, Familial
0.710 CausalMutation CLINVAR Dissecting the N-terminal myosin binding site of human cardiac myosin-binding protein C. Structure and myosin binding of domain C2. 17192269 2007
Cardiomyopathy, Hypertrophic, Familial
0.710 GeneticVariation BEFREE The p.R870H mutation has been identified as the cause of familial hypertrophic cardiomyopathy in an Indian family. 17703256 2007
Cardiomyopathy, Hypertrophic, Familial
0.710 CausalMutation CLINVAR The p.R870H mutation has been identified as the cause of familial hypertrophic cardiomyopathy in an Indian family. 17703256 2007
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
0.800 CausalMutation CLINVAR [Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy]. 19150014 2009
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.720 CausalMutation CLINVAR [Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy]. 19150014 2009
Cardiomyopathy, Hypertrophic, Familial
0.710 CausalMutation CLINVAR Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. 20031618 2009