×
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
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: 7139
Gene Symbol: TNNT2
TNNT2
Hypertrophic Cardiomyopathy
0.800
CausalMutation
CLINVAR
Correlation of molecular and functional effects of mutations in cardiac troponin T linked to familial hypertrophic cardiomyopathy: an integrative in silico/in vitro approach.
22334656 2012
×
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
Hypertrophic Cardiomyopathy
0.800
CausalMutation
CLINVAR
Phenotypic differences between electrocardiographic and echocardiographic determination of hypertrophic cardiomyopathy in genetically affected subjects.
16115294 2005
×
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
Hypertrophic Cardiomyopathy
0.800
CausalMutation
CLINVAR
Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments.
17932326 2007
×
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
Hypertrophic Cardiomyopathy
0.800
CausalMutation
CLINVAR
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.
23396983 2013
×
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
Hypertrophic Cardiomyopathy
0.800
CausalMutation
CLINVAR
Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype.
15923195 2005
×
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
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
Hypertrophic Cardiomyopathy
0.800
GeneticVariation
CLINVAR
Mutations profile in Chinese patients with hypertrophic cardiomyopathy.
15563892 2005
×
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
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
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
Hypertrophic Cardiomyopathy
0.800
CausalMutation
CLINVAR
Impact of systolic dysfunction in genotyped hypertrophic cardiomyopathy.
23197398 2013
×
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
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
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
Hypertrophic Cardiomyopathy
0.800
CausalMutation
CLINVAR
Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.
20031618 2009
×
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
Hypertrophic Cardiomyopathy
0.800
GeneticVariation
CLINVAR
Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region.
11606294 2001
×
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
Hypertrophic Cardiomyopathy
0.800
CausalMutation
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
×
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
Hypertrophic Cardiomyopathy
0.800
CausalMutation
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
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
Hypertrophic Cardiomyopathy
0.800
CausalMutation
CLINVAR
Gene symbol: MYH7.
17438619 2007
×
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
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
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
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
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: 7139
Gene Symbol: TNNT2
TNNT2
Hypertrophic Cardiomyopathy
0.800
CausalMutation
CLINVAR
Effects of troponin T cardiomyopathy mutations on the calcium sensitivity of the regulated thin filament and the actomyosin cross-bridge kinetics of human β-cardiac myosin.
24367593 2013
×
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
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