| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| N-acetyl glutamate synthetase deficiency | NAGS | disease | C0268543 | Biomarker | 0.76 | orphanet , disgenet |
| N-acetyl glutamate synthetase deficiency | NAGS | disease | C0268543 | CausalMutation | 0.76 | orphanet , disgenet |
| N-acetyl glutamate synthetase deficiency | NAGS | disease | C0268543 | GeneticVariation | 0.76 | orphanet , disgenet |
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