| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial | PCK2 | disease | C1849821 | CausalMutation | 0.1 | orphanet , disgenet |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial | NRL | disease | C1849821 | CausalMutation | 0.1 | disgenet |
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