| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Infantile convulsions and paroxysmal choreoathetosis, familial | PRRT2 | disease | C1865926 | CausalMutation | 0.8 | disgenet |
| Infantile convulsions and paroxysmal choreoathetosis, familial | PRRT2 | disease | C1865926 | GermlineCausalMutation | 0.8 | disgenet |
| Infantile convulsions and paroxysmal choreoathetosis, familial | PRRT2 | disease | C1865926 | GeneticVariation | 0.8 | disgenet |
| Infantile convulsions and paroxysmal choreoathetosis, familial | PRRT2 | disease | C1865926 | Biomarker | 0.8 | disgenet |
| Infantile convulsions and paroxysmal choreoathetosis, familial | SCN8A | disease | C1865926 | GermlineCausalMutation | 0.3 | disgenet |
| Infantile convulsions and paroxysmal choreoathetosis, familial | PRKCB | disease | C1865926 | Biomarker | 0.01 | disgenet |
| Infantile convulsions and paroxysmal choreoathetosis, familial | PRKCA | disease | C1865926 | Biomarker | 0.01 | disgenet |
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