Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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