Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Cardiomyopathy, Hypertrophic, Familial
0.500 CausalMutation disease CLINVAR Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3. 31568572 2019
Cardiomyopathy, Hypertrophic, Familial
0.500 CausalMutation disease CLINVAR RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy. 31333075 2019
Cardiomyopathy, Hypertrophic, Familial
0.500 Biomarker disease BEFREE We will subsequently focus on the roles allelic imbalance and haploinsufficiency play within MYBPC3-linked HCM. 30456444 2019
Cardiomyopathy, Hypertrophic, Familial
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
Cardiomyopathy, Hypertrophic, Familial
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
Cardiomyopathy, Hypertrophic, Familial
0.500 CausalMutation disease CLINVAR Data on exercise and cardiac imaging in a patient cohort with hypertrophic cardiomyopathy. 28971120 2017
Cardiomyopathy, Hypertrophic, Familial
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
Cardiomyopathy, Hypertrophic, Familial
0.500 CausalMutation disease CLINVAR Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults. 28087566 2017
Cardiomyopathy, Hypertrophic, Familial
0.500 GeneticVariation disease CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
Cardiomyopathy, Hypertrophic, Familial
0.500 GeneticVariation disease CLINVAR Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients. 28356264 2017
Cardiomyopathy, Hypertrophic, Familial
0.500 CausalMutation disease CLINVAR Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy. 28797094 2017
Cardiomyopathy, Hypertrophic, Familial
0.500 CausalMutation disease CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
Cardiomyopathy, Hypertrophic, Familial
0.500 GeneticVariation disease CLINVAR Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing. 28790153 2017
Cardiomyopathy, Hypertrophic, Familial
0.500 CausalMutation disease CLINVAR Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage. 29121657 2017
Cardiomyopathy, Hypertrophic, Familial
0.500 GeneticVariation disease CLINVAR Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing. 28679633 2017
Cardiomyopathy, Hypertrophic, Familial
0.500 CausalMutation disease CLINVAR Echocardiographic characterization of hypertrophic cardiomyopathy in Chinese patients with myosin-binding protein C3 mutations. 28450932 2017
Cardiomyopathy, Hypertrophic, Familial
0.500 CausalMutation disease CLINVAR Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications. 28408708 2017
Cardiomyopathy, Hypertrophic, Familial
0.500 GeneticVariation disease CLINVAR Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy. 28771489 2017
Cardiomyopathy, Hypertrophic, Familial
0.500 GeneticVariation disease CLINVAR Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy. 27600940 2016
Cardiomyopathy, Hypertrophic, Familial
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
Cardiomyopathy, Hypertrophic, Familial
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
Cardiomyopathy, Hypertrophic, Familial
0.500 GeneticVariation disease CLINVAR Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy. 26914223 2016
Cardiomyopathy, Hypertrophic, Familial
0.500 CausalMutation disease CLINVAR Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy. 27600940 2016
Cardiomyopathy, Hypertrophic, Familial
0.500 CausalMutation disease CLINVAR Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy. 26914223 2016
Cardiomyopathy, Hypertrophic, Familial
0.500 CausalMutation disease CLINVAR Genotype-Dependent and -Independent Calcium Signaling Dysregulation in Human Hypertrophic Cardiomyopathy. 27688314 2016