Gene: MYBPC3 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease CLINVAR Mutations profile in Chinese patients with hypertrophic cardiomyopathy. 15563892 2005
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease UNIPROT Mutations profile in Chinese patients with hypertrophic cardiomyopathy. 15563892 2005
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation 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 		0.900 GeneticVariation disease UNIPROT Hypertrophic cardiomyopathy linked to homozygosity for a new mutation in the myosin-binding protein C gene (A627V) suggests a dosage effect. 16004897 2005
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease CLINVAR Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg-->Cys mutation in the beta-myosin heavy chain gene: coexistence of sudden death and end-stage heart failure. 8655135 1996
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266 2013
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease CLINVAR COOH-terminal truncated cardiac myosin-binding protein C mutants resulting from familial hypertrophic cardiomyopathy mutations exhibit altered expression and/or incorporation in fetal rat cardiomyocytes. 10610770 1999
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease CLINVAR "Hypertrophic cardiomyopathy: two homozygous cases with ""typical"" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy." 12951062 2003
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 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: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease CLINVAR Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 25611685 2015
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 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: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease CLINVAR Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. 18533079 2008
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease UNIPROT Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. 9562578 1998
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease UNIPROT Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene. 9541104 1998
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease UNIPROT Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 12974739 2003
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease UNIPROT Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction? 7744002 1995
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease CLINVAR A novel custom resequencing array for dilated cardiomyopathy. 20474083 2010
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease CLINVAR Biomolecular interactions between human recombinant beta-MyHC and cMyBP-Cs implicated in familial hypertrophic cardiomyopathy. 14613868 2003
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease CLINVAR Clinical challenges of genotype positive (+)-phenotype negative (-) family members in hypertrophic cardiomyopathy. 21185001 2011
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease UNIPROT Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy. 9048664 1997
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease CLINVAR Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. 20624503 2011
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease CLINVAR Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic setting. 27650965 2016
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease UNIPROT The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands. 14563344 2003
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease UNIPROT Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations. 11499718 2001
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease UNIPROT Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. 16199542 2005