| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Phosphoenolpyruvate carboxykinase deficiency | PCK1 | disease | C0268194 | Biomarker | 0.61 | orphanet , disgenet |
| Phosphoenolpyruvate carboxykinase deficiency | PCK1 | disease | C0268194 | GeneticVariation | 0.61 | orphanet , disgenet |
| Phosphoenolpyruvate carboxykinase deficiency | PCK1 | disease | C0268194 | GermlineCausalMutation | 0.61 | orphanet , disgenet |
| Phosphoenolpyruvate carboxykinase deficiency | PCK2 | disease | C0268194 | GermlineCausalMutation | 0.3 | disgenet |
| click here to return to the previous page | ||||||