| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Phosphoglycerate Dehydrogenase Deficiency | PHGDH | disease | C1866174 | Biomarker | 0.7 | orphanet , disgenet |
| Phosphoglycerate Dehydrogenase Deficiency | PHGDH | disease | C1866174 | CausalMutation | 0.7 | orphanet , disgenet |
| Phosphoglycerate Dehydrogenase Deficiency | PHGDH | disease | C1866174 | GeneticVariation | 0.7 | orphanet , disgenet |
| Phosphoglycerate Dehydrogenase Deficiency | POU5F1P3 | disease | C1866174 | Biomarker | 0.01 | disgenet |
| Phosphoglycerate Dehydrogenase Deficiency | SOX2 | disease | C1866174 | AlteredExpression | 0.01 | disgenet |
| Phosphoglycerate Dehydrogenase Deficiency | POU5F1P4 | disease | C1866174 | Biomarker | 0.01 | disgenet |
| Phosphoglycerate Dehydrogenase Deficiency | POU5F1 | disease | C1866174 | Biomarker | 0.01 | disgenet |
| Phosphoglycerate Dehydrogenase Deficiency | COMMD3-BMI1 | disease | C1866174 | AlteredExpression | 0.01 | disgenet |
| Phosphoglycerate Dehydrogenase Deficiency | BMI1 | disease | C1866174 | AlteredExpression | 0.01 | disgenet |
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