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 		0.500 CausalMutation disease CLINVAR Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3. 31568572 2019
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.500 CausalMutation disease CLINVAR RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy. 31333075 2019
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.500 Biomarker disease BEFREE We will subsequently focus on the roles allelic imbalance and haploinsufficiency play within MYBPC3-linked HCM. 30456444 2019
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.500 CausalMutation disease CLINVAR Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy. 31730716 2019
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.500 GeneticVariation disease BEFREE Whole-exome sequencing identifies rare compound heterozygous mutations in the MYBPC3 gene associated with severe familial hypertrophic cardiomyopathy. 29524613 2018
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.500 CausalMutation disease CLINVAR Data on exercise and cardiac imaging in a patient cohort with hypertrophic cardiomyopathy. 28971120 2017
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.500 CausalMutation disease 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 		0.500 CausalMutation disease CLINVAR Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults. 28087566 2017
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.500 GeneticVariation 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 		0.500 GeneticVariation disease CLINVAR Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients. 28356264 2017
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.500 CausalMutation disease 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 		0.500 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 		0.500 GeneticVariation disease CLINVAR Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing. 28790153 2017
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.500 CausalMutation disease CLINVAR Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage. 29121657 2017
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.500 GeneticVariation disease CLINVAR Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing. 28679633 2017
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.500 CausalMutation disease CLINVAR Echocardiographic characterization of hypertrophic cardiomyopathy in Chinese patients with myosin-binding protein C3 mutations. 28450932 2017
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.500 CausalMutation disease CLINVAR Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications. 28408708 2017
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.500 GeneticVariation disease CLINVAR Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy. 28771489 2017
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.500 GeneticVariation disease CLINVAR Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy. 27600940 2016
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.500 GeneticVariation 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 		0.500 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 		0.500 GeneticVariation disease CLINVAR Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy. 26914223 2016
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.500 CausalMutation disease CLINVAR Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy. 27600940 2016
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.500 CausalMutation disease CLINVAR Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy. 26914223 2016
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		0.500 CausalMutation disease CLINVAR Genotype-Dependent and -Independent Calcium Signaling Dysregulation in Human Hypertrophic Cardiomyopathy. 27688314 2016