Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR Clinical features, spectrum of causal genetic mutations and outcome of hypertrophic cardiomyopathy in South Africans. 27841901 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease BEFREE Thirteen variants in <i>MYBPC3</i> and <i>MYH7</i> (myosin heavy chain 7) were each identified >3 times and accounted for 78 of 185 (42%) hypertrophic cardiomyopathy families with a causal variant. 28615295 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR Biophysical properties of human β-cardiac myosin with converter mutations that cause hypertrophic cardiomyopathy. 28246639 2017
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.800 Biomarker disease CLINGEN Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease CLINVAR Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes. 28606303 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.800 CausalMutation disease CLINVAR Molecular mechanisms and structural features of cardiomyopathy-causing troponin T mutants in the tropomyosin overlap region. 28973951 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 Biomarker disease CLINGEN Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease CLINVAR Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy. 29255176 2017
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.800 CausalMutation disease CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.800 GeneticVariation disease CLINVAR Hypertrophic Cardiomyopathy Without Ventricular Hypertrophy: Usefulness of Genetic and Pathological Study in Preventing Sudden Death. 28073646 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease CLINVAR Life-long tailoring of management for patients with hypertrophic cardiomyopathy : Awareness and decision-making in changing scenarios. 28005231 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 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 		0.800 GeneticVariation disease CLINVAR Identification of pathogenic variants in genes related to channelopathy and cardiomyopathy in Korean sudden cardiac arrest survivors. 28202948 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease CLINVAR Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome. 28449774 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 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 		0.800 GeneticVariation disease BEFREE Likely pathogenic variants were found in three ARVC cases (12%) in PKP2, DSC2 or DSP, two DCM cases (20%) in MYH7, and four HCM cases (27%) in MYBPC3 (3) or MYH7 (1). 27000522 2017
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.800 CausalMutation disease CLINVAR Prevalence and Clinical Implication of Double Mutations in Hypertrophic Cardiomyopathy: Revisiting the Gene-Dose Effect. 28420666 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease BEFREE Of the 6 single mutations, a novel mutation was found in tafazzin (TAZ, p.Ile208Val), and a mutation in β-myosin heavy chain gene (MYH7, p.Arg54Gln), which was reported as rare in the general population, was firstly found in one HCM patient. 28498465 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease BEFREE MYBPC3 and MYH7 mutations contributed to 50.0% and 24.4% of the HCM patients, respectively, suggesting that MYBPC3 mutations were the most frequent cause of HCM in our cohort. 29121657 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR Clinical genetics and outcome of left ventricular non-compaction cardiomyopathy. 29029073 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 GeneticVariation disease CLINVAR Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage. 29121657 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR Genetic anticipation in a special form of hypertrophic cardiomyopathy with sudden cardiac death in a family with 74 members across 5 generations. 28296734 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 CausalMutation disease CLINVAR Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing. 28790153 2017
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.800 GeneticVariation disease CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017