×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
0.500
CausalMutation
disease
CLINVAR
Ubiquitin-proteasome system impairment caused by a missense cardiac myosin-binding protein C mutation and associated with cardiac dysfunction in hypertrophic cardiomyopathy.
18929575
2008
×
Entrez Id:
7168
Gene Symbol:
TPM1
TPM1
0.500
CausalMutation
disease
CLINVAR
Two founder mutations in the alpha-tropomyosin and the cardiac myosin-binding protein C genes are common causes of hypertrophic cardiomyopathy in the Finnish population.
22462493
2013
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
0.500
GeneticVariation
disease
BEFREE
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:
7168
Gene Symbol:
TPM1
TPM1
0.500
GeneticVariation
disease
CLINVAR
A study of tropomyosin's role in cardiac function and disease using thin-filament reconstituted myocardium.
23700264
2013
×
Entrez Id:
7168
Gene Symbol:
TPM1
TPM1
0.500
CausalMutation
disease
CLINVAR
Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.
24510615
2014
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
0.500
CausalMutation
disease
CLINVAR
Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype.
21551322
2011
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
0.500
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:
7168
Gene Symbol:
TPM1
TPM1
0.500
CausalMutation
disease
CLINVAR
Multiplexed Reference Materials as Controls for Diagnostic Next-Generation Sequencing: A Pilot Investigating Applications for Hypertrophic Cardiomyopathy.
27639548
2016
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
0.500
GeneticVariation
disease
CLINVAR
Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy.
23782526
2013
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
0.500
CausalMutation
disease
CLINVAR
Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians.
25448463
2014
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
0.500
CausalMutation
disease
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
0.500
CausalMutation
disease
CLINVAR
Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.
12818575
2003
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
0.500
CausalMutation
disease
CLINVAR
A transgenic rabbit model for human hypertrophic cardiomyopathy.
10606622
1999
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
0.500
CausalMutation
disease
CLINVAR
Early identification of mutation carriers in familial hypertrophic cardiomyopathy by combined echocardiography and tissue Doppler imaging.
20439259
2010
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
0.500
GeneticVariation
disease
CLINVAR
Micro-exons of the cardiac myosin binding protein C gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations.
18337725
2008
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
0.500
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:
4607
Gene Symbol:
MYBPC3
MYBPC3
0.500
Biomarker
disease
BEFREE
The gene coding for cardiac MyBP-C has been assigned to the chromosomal location 11p11.2 in humans, and is therefore in a region of physical linkage to subsets of familial hypertrophic cardiomyopathy (FHC).
7744002
1995
×
Entrez Id:
7168
Gene Symbol:
TPM1
TPM1
0.500
CausalMutation
disease
CLINVAR
Mechanistic heterogeneity in contractile properties of α-tropomyosin (TPM1) mutants associated with inherited cardiomyopathies.
25548289
2015
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
0.500
CausalMutation
disease
CLINVAR
Data on exercise and cardiac imaging in a patient cohort with hypertrophic cardiomyopathy.
28971120
2017
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
0.500
CausalMutation
disease
CLINVAR
Mutation of Arg723Gly in beta-myosin heavy chain gene in five Chinese families with hypertrophic cardiomyopathy.
17097032
2006
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
0.500
GeneticVariation
disease
CLINVAR
Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome.
22267749
2012
×
Entrez Id:
7137
Gene Symbol:
TNNI3
TNNI3
0.500
CausalMutation
disease
CLINVAR
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
27532257
2017
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
0.500
CausalMutation
disease
CLINVAR
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.
24793961
2014
×
Entrez Id:
4607
Gene Symbol:
MYBPC3
MYBPC3
0.500
GeneticVariation
disease
CLINVAR
Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.
27600940
2016
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
0.500
GeneticVariation
disease
CLINVAR
Genetics of hypertrophic cardiomyopathy in Norway.
24111713
2014