| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency | SPR | disease | C0268468 | GermlineCausalMutation | 0.71 | orphanet , disgenet |
| Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency | SPR | disease | C0268468 | GeneticVariation | 0.71 | orphanet , disgenet |
| Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency | SPR | disease | C0268468 | CausalMutation | 0.71 | orphanet , disgenet |
| Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency | SPR | disease | C0268468 | Biomarker | 0.71 | orphanet , disgenet |
| Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency | GCH1 | disease | C0268468 | Biomarker | 0.02 | disgenet |
| Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency | MCEE | disease | C0268468 | Biomarker | 0.01 | disgenet |
| Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency | PTS | disease | C0268468 | GeneticVariation | 0.01 | disgenet |
| Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency | TPP1 | disease | C0268468 | GeneticVariation | 0.01 | disgenet |
| Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency | PLXNA2 | disease | C0268468 | Biomarker | 0.01 | disgenet |
| Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency | IL6 | disease | C0268468 | Biomarker | 0.01 | disgenet |
| Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency | VEGFA | disease | C0268468 | Biomarker | 0.01 | disgenet |
| Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency | CHI3L1 | disease | C0268468 | Biomarker | 0.01 | disgenet |
| Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency | ARAF | disease | C0268468 | GeneticVariation | 0.01 | disgenet |
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