Myoclonic encephalopathy
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Myoclonic Encephalopathy | C0438414 | PMP22 | 17275665 |
| POMC | 6088243 | ||
| SCN1A | 21480876 | ||
| SCN9A | |||
| STXBP1 | 18469812 | ||
| RAPGEF2 | 29507423 | ||
| TNRC6A | 29507423 | ||
| SAMD12 | 29507423 | ||
| Early myoclonic encephalopathy | C0270855, 1935 | SLC25A22 | 15592994, 24596948, 27604308 |
| SIK1 | 25839329 |