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 UNIPROT Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. 15519027 2004
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease CLINVAR Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organization. 25210889 2014
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease CLINVAR Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. 15358028 2004
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 Biomarker disease CLINGEN Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology. 26358504 2015
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR Relation between QT duration and maximal wall thickness in familial hypertrophic cardiomyopathy. 12117842 2002
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 12974739 2003
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR Actionable exomic incidental findings in 6503 participants: challenges of variant classification. 25637381 2015
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR Uptake of cardiac screening and genetic testing among hypertrophic and dilated cardiomyopathy families. 23054336 2013
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy. 20433692 2010
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease CLINVAR The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy. 20530761 2010
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239 2003
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease UNIPROT Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene. 18957093 2008
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease CLINVAR Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy. 20378854 2010
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease CLINVAR Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. 20031618 2009
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 Biomarker disease CLINGEN Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. 7493025 1995
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing. 26090888 2015
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease UNIPROT Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden. 12818575 2003
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease CLINVAR Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands. 20505798 2010
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR Severe cardiac conduction disturbances and pacemaker implantation in patients with hypertrophic cardiomyopathy. 20738943 2010
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 23283745 2013
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy. 24093860 2013
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 Biomarker disease CTD_human
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR Evidence for efficacy of the Italian national pre-participation screening programme for identification of hypertrophic cardiomyopathy in competitive athletes. 16831826 2006
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy. 21511876 2011
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR An Investigation of the Molecular Mechanism of Double cMyBP-C Mutation in a Patient with End-Stage Hypertrophic Cardiomyopathy. 25971843 2015