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 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 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 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 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 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
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR Impairment of the ubiquitin-proteasome system by truncated cardiac myosin binding protein C mutants. 15769446 2005
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy. 25031304 2014
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease CLINVAR Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy. 10424815 1999
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunction. 19273718 2009
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life. 25740977 2015
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 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: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease CLINVAR Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects. 25335496 2015
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy. 19808356 2009
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease CLINVAR Shared genetic causes of cardiac hypertrophy in children and adults. 18403758 2008
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR Mutations profile in Chinese patients with hypertrophic cardiomyopathy. 15563892 2005
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease CLINVAR Hypertrophic cardiomyopathy in a Portuguese population: mutations in the myosin-binding protein C gene. 16566405 2005
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease CLINVAR 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