| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Phosphoglycerate Kinase 1 Deficiency | PGK1 | disease | C1970848 | CausalMutation | 0.77 | orphanet , disgenet |
| Phosphoglycerate Kinase 1 Deficiency | PGK1 | disease | C1970848 | GeneticVariation | 0.77 | orphanet , disgenet |
| Phosphoglycerate Kinase 1 Deficiency | PGK1 | disease | C1970848 | GermlineCausalMutation | 0.77 | orphanet , disgenet |
| Phosphoglycerate Kinase 1 Deficiency | PGK1 | disease | C1970848 | Biomarker | 0.77 | orphanet , disgenet |
| Phosphoglycerate Kinase 1 Deficiency | PGK1P1 | disease | C1970848 | GeneticVariation | 0.01 | disgenet |
| Phosphoglycerate Kinase 1 Deficiency | IMPDH1 | disease | C1970848 | GeneticVariation | 0.01 | disgenet |
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