Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 CausalMutation CLINVAR Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies. 30165862

2018
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 CausalMutation CLINVAR Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy. 28615295

2017
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 GeneticVariation CLINVAR Lack of Phenotypic Differences by Cardiovascular Magnetic Resonance Imaging in MYH7 (β-Myosin Heavy Chain)- Versus MYBPC3 (Myosin-Binding Protein C)-Related Hypertrophic Cardiomyopathy. 28193612

2017
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 GeneticVariation 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 CausalMutation CLINVAR Uncomplicated Pregnancy in a Patient Treated With Alcohol Septal Ablation for Hypertrophic Obstructive Cardiomyopathy. 28024942

2017
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 CausalMutation CLINVAR Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing. 28790153

2017
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 CausalMutation CLINVAR Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy. 28797094

2017
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 CausalMutation CLINVAR Lack of Phenotypic Differences by Cardiovascular Magnetic Resonance Imaging in MYH7 (β-Myosin Heavy Chain)- Versus MYBPC3 (Myosin-Binding Protein C)-Related Hypertrophic Cardiomyopathy. 28193612

2017
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 CausalMutation CLINVAR Data on exercise and cardiac imaging in a patient cohort with hypertrophic cardiomyopathy. 28971120

2017
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 CausalMutation CLINVAR Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage. 29121657

2017
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 CausalMutation CLINVAR Prognostic predictive value of gene mutations in Japanese patients with hypertrophic cardiomyopathy. 27885498

2017
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 GeneticVariation CLINVAR Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients. 28356264

2017
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 GeneticVariation CLINVAR Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy. 28771489

2017
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 CausalMutation CLINVAR Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing. 28679633

2017
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 GeneticVariation CLINVAR The Burden of Early Phenotypes and the Influence of Wall Thickness in Hypertrophic Cardiomyopathy Mutation Carriers: Findings From the HCMNet Study. 28241245

2017
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 CausalMutation 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 GeneticVariation CLINVAR Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy. 29255176

2017
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 CausalMutation CLINVAR MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy. 28658286

2017
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 GeneticVariation CLINVAR Prevalence and Clinical Implication of Double Mutations in Hypertrophic Cardiomyopathy: Revisiting the Gene-Dose Effect. 28420666

2017
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 CausalMutation CLINVAR Myosin-binding Protein C Compound Heterozygous Variant Effect on the Phenotypic Expression of Hypertrophic Cardiomyopathy. 28538763

2017
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 GeneticVariation CLINVAR Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing. 28679633

2017
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 CausalMutation CLINVAR Prevalence and Phenotypic Expression of Mutations in the MYH7, MYBPC3 and TNNT2 Genes in Families with Hypertrophic Cardiomyopathy in the South of Brazil: A Cross-Sectional Study. 27737317

2016
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 CausalMutation CLINVAR Functional Studies and In Silico Analyses to Evaluate Non-Coding Variants in Inherited Cardiomyopathies. 27834932

2016
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 CausalMutation CLINVAR Aggregate penetrance of genomic variants for actionable disorders in European and African Americans. 27831900

2016
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 GeneticVariation CLINVAR Comparison of the effects of a truncating and a missense MYBPC3 mutation on contractile parameters of engineered heart tissue. 27108529

2016