| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Phosphoribosylpyrophosphate Synthetase Superactivity | PRPS1 | disease | C1970827 | CausalMutation | 0.71 | orphanet , disgenet |
| Phosphoribosylpyrophosphate Synthetase Superactivity | PRPS1 | disease | C1970827 | GeneticVariation | 0.71 | orphanet , disgenet |
| Phosphoribosylpyrophosphate Synthetase Superactivity | PRPS1 | disease | C1970827 | Biomarker | 0.71 | orphanet , disgenet |
| Phosphoribosylpyrophosphate Synthetase Superactivity | ADSL | disease | C1970827 | Biomarker | 0.01 | disgenet |
| Phosphoribosylpyrophosphate Synthetase Superactivity | PNP | disease | C1970827 | Biomarker | 0.01 | disgenet |
| Phosphoribosylpyrophosphate Synthetase Superactivity | NT5C2 | disease | C1970827 | Biomarker | 0.01 | disgenet |
| Phosphoribosylpyrophosphate Synthetase Superactivity | ADA | disease | C1970827 | Biomarker | 0.01 | disgenet |
| Phosphoribosylpyrophosphate Synthetase Superactivity | ADK | disease | C1970827 | AlteredExpression | 0.01 | disgenet |
| click here to return to the previous page | ||||||