| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Glutathione synthetase deficiency | GSS | disease | C0398746 | Biomarker | 0.74 | orphanet , disgenet |
| Glutathione synthetase deficiency | GSS | disease | C0398746 | CausalMutation | 0.74 | orphanet , disgenet |
| Glutathione synthetase deficiency | GSS | disease | C0398746 | GeneticVariation | 0.74 | orphanet , disgenet |
| Glutathione synthetase deficiency | GSS | disease | C0398746 | AlteredExpression | 0.74 | orphanet , disgenet |
| Glutathione synthetase deficiency | GSS | disease | C0398746 | GermlineCausalMutation | 0.74 | orphanet , disgenet |
| Glutathione synthetase deficiency | OPLAH | disease | C0398746 | GeneticVariation | 0.02 | disgenet |
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