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 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 CausalMutation 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 CLINVAR Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. 15519027 2004
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR 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 CLINVAR Mortality risk of untreated myosin-binding protein C-related hypertrophic cardiomyopathy: insight into the natural history. 22115648 2011
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR Efficacy of catheter ablation for atrial fibrillation in hypertrophic cardiomyopathy: impact of age, atrial remodelling, and disease progression. 20173211 2010
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266 2013
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR 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 Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy. 11499719 2001
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene. 9631872 1998
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease UNIPROT Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. 11815426 2002
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 Biomarker disease CLINGEN Contractile dysfunction in a mouse model expressing a heterozygous MYBPC3 mutation associated with hypertrophic cardiomyopathy. 24464755 2014
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation 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 Crystal structure of the C1 domain of cardiac myosin binding protein-C: implications for hypertrophic cardiomyopathy. 18374358 2008
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 Biomarker disease MGD Dilated cardiomyopathy in homozygous myosin-binding protein-C mutant mice. 10545522 1999
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease CLINVAR A case of compound mutations in the MYBPC3 gene associated with biventricular hypertrophy and neonatal death. 22907696 2012
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 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 		0.900 Biomarker disease GENOMICS_ENGLAND 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 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 		0.900 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 		0.900 CausalMutation disease CLINVAR Contribution of inherited heart disease to sudden cardiac death in childhood. 17908752 2007
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort. 27483260 2016
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 CausalMutation disease CLINVAR Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations. 21835320 2011
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 Biomarker disease CLINGEN Asymmetric septal hypertrophy in heterozygous cMyBP-C null mice. 15249187 2004
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.900 GeneticVariation disease CLINVAR Malignant mutations in hypertrophic cardiomyopathy: fact or fancy? 16335287 2005