Myosin storage myopathy
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Myopathy, Hyaline Body, Autosomal Recessive | C1850709 | MYH7 | Causal Pathogenic evidence from ClinVar | 10750581, 20186049, 23283745, 23290139, 23299917, 25132132, 25666907, 27532257 | ClinVar |
| MYOPATHY, MYOSIN STORAGE (disorder) | C1842160 | MYH7 | Causal Pathogenic evidence from ClinVar | 10750581, 14520662, 15136674, 16684601, 17336526, 20186049, 23283745, 23290139, 23299917, 25132132, 27532257 | ClinVar |