Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C1850709
Disease: Myopathy, Hyaline Body, Autosomal Recessive
Myopathy, Hyaline Body, Autosomal Recessive 		0.700 CausalMutation CLINVAR Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy. 25132132

2014
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C1850709
Disease: Myopathy, Hyaline Body, Autosomal Recessive
Myopathy, Hyaline Body, Autosomal Recessive 		0.700 CausalMutation CLINVAR New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants. 23299917

2013
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C1850709
Disease: Myopathy, Hyaline Body, Autosomal Recessive
Myopathy, Hyaline Body, Autosomal Recessive 		0.700 CausalMutation CLINVAR Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells. 23290139

2013
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C1850709
Disease: Myopathy, Hyaline Body, Autosomal Recessive
Myopathy, Hyaline Body, Autosomal Recessive 		0.700 CausalMutation CLINVAR Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 23283745

2013
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C1850709
Disease: Myopathy, Hyaline Body, Autosomal Recessive
Myopathy, Hyaline Body, Autosomal Recessive 		0.700 CausalMutation CLINVAR Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation. 10750581

1999
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C1850709
Disease: Myopathy, Hyaline Body, Autosomal Recessive
Myopathy, Hyaline Body, Autosomal Recessive 		0.700 GeneticVariation CLINVAR