Neutral lipid storage myopathy
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Neutral Lipid Storage Disease with Myopathy | C1853136 | PNPLA2 | Causal Pathogenic evidence from ClinVar | 17187067, 18445597, 21544567, 22832386, 22990388, 23232698, 23449549, 28499397 | ClinVar |
| Neutral lipid storage myopathy | 98908 | PNPLA2 | Causal Pathogenic evidence from ClinVar | - | ClinVar |