Paramyotonia congenita
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Paramyotonia Congenita (disorder) | C0221055 | SCN4A | Causal Pathogenic evidence from ClinVar | 1310898, 1316765, 1338909, 8242056, 8308722, 8388676, 8580427, 10369308, 10727489, 15318338, 15790667, 16786525, 18166706, 18690054, 19015483, 19077043, 20076800, 26700687 | ClinVar |