Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.500 GeneticVariation disease CLINVAR Good Intentions Gone Bad. 31112422 2019
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: 4625
Gene Symbol: MYH7
MYH7
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: 4625
Gene Symbol: MYH7
MYH7
0.500 CausalMutation disease CLINVAR Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3. 31568572 2019
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.500 CausalMutation disease CLINVAR Genetic testing impacts the utility of prospective familial screening in hypertrophic cardiomyopathy through identification of a nonfamilial subgroup. 28640247 2018
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: 4625
Gene Symbol: MYH7
MYH7
0.500 GeneticVariation disease CLINVAR Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe). 30297972 2018
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.500 GeneticVariation disease CLINVAR Coverage and diagnostic yield of Whole Exome Sequencing for the Evaluation of Cases with Dilated and Hypertrophic Cardiomyopathy. 30022097 2018
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.500 GeneticVariation disease BEFREE We used TALEN-mediated genome editing and successfully introduced the HCM-point mutation R723G into the MYH7 gene of porcine fibroblasts and subsequently cloned pigs that were heterozygous for the HCM-mutation R723G. 29555974 2018
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.500 CausalMutation disease CLINVAR Novel Adult-Onset Systolic Cardiomyopathy Due to MYH7 E848G Mutation in Patient-Derived Induced Pluripotent Stem Cells. 30623132 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: 7137
Gene Symbol: TNNI3
TNNI3
0.500 CausalMutation disease CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
0.500 GeneticVariation disease CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.500 CausalMutation disease CLINVAR Usefulness of Genetic Testing in Hypertrophic Cardiomyopathy: an Analysis Using Real-World Data. 28138913 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.500 CausalMutation disease CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
0.500 GeneticVariation disease CLINVAR Identification of a novel hypertrophic cardiomyopathy-associated mutation using targeted next-generation sequencing. 28498465 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.500 CausalMutation disease CLINVAR Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy. 28615295 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.500 GeneticVariation disease CLINVAR Prevalence and Clinical Implication of Double Mutations in Hypertrophic Cardiomyopathy: Revisiting the Gene-Dose Effect. 28420666 2017
Entrez Id: 7168
Gene Symbol: TPM1
TPM1
0.500 CausalMutation disease CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
0.500 GeneticVariation disease CLINVAR Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy. 28615295 2017
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
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 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