Gene: MYBPC3 ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.100 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 		0.100 CausalMutation 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 		0.100 CausalMutation 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 		0.100 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 		0.100 CausalMutation disease CLINVAR Structural characterization of the C3 domain of cardiac myosin binding protein C and its hypertrophic cardiomyopathy-related R502W mutant. 25058872 2014
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.100 CausalMutation disease CLINVAR Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337 2014
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.100 CausalMutation disease CLINVAR Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing. 25342278 2014
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.100 CausalMutation disease CLINVAR Abnormal cardiac formation in hypertrophic cardiomyopathy: fractal analysis of trabeculae and preclinical gene expression. 24704860 2014
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.100 CausalMutation disease CLINVAR Significance of left ventricular apical-basal muscle bundle identified by cardiovascular magnetic resonance imaging in patients with hypertrophic cardiomyopathy. 24810389 2014
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.100 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 		0.100 CausalMutation disease CLINVAR Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy. 23690394 2013
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.100 CausalMutation disease CLINVAR New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants. 23299917 2013
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.100 CausalMutation disease CLINVAR Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors. 21839045 2012
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.100 CausalMutation 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 		0.100 CausalMutation disease CLINVAR Prevalence and clinical profile of myocardial crypts in hypertrophic cardiomyopathy. 22563033 2012
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.100 CausalMutation disease CLINVAR Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy. 22765922 2012
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.100 CausalMutation disease CLINVAR Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice. 21239446 2011
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.100 CausalMutation 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 		0.100 CausalMutation disease CLINVAR Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy. 21302287 2011
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.100 CausalMutation disease CLINVAR Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. 20359594 2010
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.100 CausalMutation disease CLINVAR The yield of risk stratification for sudden cardiac death in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers: focus on predictive screening. 20019025 2010
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.100 CausalMutation disease CLINVAR Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands. 20505798 2010
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.100 CausalMutation disease CLINVAR Myocardial fibrosis as an early manifestation of hypertrophic cardiomyopathy. 20818890 2010
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.100 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 		0.100 CausalMutation disease CLINVAR Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy. 20378854 2010