| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| NGLY1 deficiency | NGLY1 | disease | C3808991 | CausalMutation | 0.77 | disgenet |
| NGLY1 deficiency | NGLY1 | disease | C3808991 | GeneticVariation | 0.77 | disgenet |
| NGLY1 deficiency | NGLY1 | disease | C3808991 | GermlineCausalMutation | 0.77 | disgenet |
| NGLY1 deficiency | NGLY1 | disease | C3808991 | Biomarker | 0.77 | disgenet |
| NGLY1 deficiency | PGM1 | disease | C3808991 | Biomarker | 0.3 | disgenet |
| NGLY1 deficiency | ENGASE | disease | C3808991 | Biomarker | 0.02 | disgenet |
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