Polyglucosan body myopathy
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| POLYGLUCOSAN BODY MYOPATHY 2 | C4015452 | GYG1 | Causal Pathogenic evidence from ClinVar | 20357282, 25272951, 26255073, 26652229, 27718144, 28453664, 29143313, 29264399 | ClinVar |
| Polyglucosan body myopathy type 2 | 456369 | GYG1 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Polyglucosan body myopathy type 1 | 397937, C4751567 | RBCK1 | Causal Pathogenic evidence from ClinVar | 23674175, 23798481 | ClinVar |
| Polyglucosan Body Disease, Adult Form | C1849722 | GBE1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 10762170, 21620786, 24357685, 25655951, 27604308 | - |