Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 CausalMutation CLINVAR Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy. 29907873

2018
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation CLINVAR Genetic basis of channelopathies and cardiomyopathies in Hong Kong Chinese patients: a 10-year regional laboratory experience. 29497013

2018
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation CLINVAR Hypertrophic cardiomyopathy disease results from disparate impairments of cardiac myosin function and auto-inhibition. 30275503

2018
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 CausalMutation CLINVAR Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel. 29300372

2018
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation CLINVAR Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel. 29300372

2018
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 CausalMutation 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 CausalMutation CLINVAR Biophysical properties of human β-cardiac myosin with converter mutations that cause hypertrophic cardiomyopathy. 28246639

2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 CausalMutation 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation CLINVAR Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy. 29255176

2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation CLINVAR Identification of a novel hypertrophic cardiomyopathy-associated mutation using targeted next-generation sequencing. 28498465

2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation CLINVAR Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome. 28449774

2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 CausalMutation CLINVAR Clinical genetics and outcome of left ventricular non-compaction cardiomyopathy. 29029073

2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation CLINVAR Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage. 29121657

2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 CausalMutation 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 CausalMutation CLINVAR Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing. 28790153

2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 CausalMutation CLINVAR Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathy. 29101517

2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation CLINVAR Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. 27247418

2016
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation CLINVAR Isolation and Mechanical Measurements of Myofibrils from Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes. 27161364

2016
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation 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: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation CLINVAR Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways. 27788187

2016
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation CLINVAR MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients. 27387980

2016