| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Striatonigral degeneration infantile | NUP62 | disease | C0795996 | Biomarker | 0.71 | orphanet , disgenet |
| Striatonigral degeneration infantile | NUP62 | disease | C0795996 | GeneticVariation | 0.71 | orphanet , disgenet |
| Striatonigral degeneration infantile | NUP62 | disease | C0795996 | GermlineCausalMutation | 0.71 | orphanet , disgenet |
| Striatonigral degeneration infantile | NUP62 | disease | C0795996 | CausalMutation | 0.71 | orphanet , disgenet |
| Striatonigral degeneration infantile | ATP6 | disease | C0795996 | GermlineCausalMutation | 0.3 | disgenet |
| Striatonigral degeneration infantile | ADAR | disease | C0795996 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Striatonigral degeneration infantile | IL4I1 | disease | C0795996 | CausalMutation | 0.1 | disgenet |
| Striatonigral degeneration infantile | IL6 | disease | C0795996 | Biomarker | 0.01 | disgenet |
| Striatonigral degeneration infantile | IL10 | disease | C0795996 | Biomarker | 0.01 | disgenet |
| Striatonigral degeneration infantile | IL1B | disease | C0795996 | AlteredExpression | 0.01 | disgenet |
| Striatonigral degeneration infantile | TNF | disease | C0795996 | AlteredExpression | 0.01 | disgenet |
| Striatonigral degeneration infantile | IL1RN | disease | C0795996 | AlteredExpression | 0.01 | disgenet |
| Striatonigral degeneration infantile | IFNG | disease | C0795996 | Biomarker | 0.01 | disgenet |
| Striatonigral degeneration infantile | MT-ATP6 | NA | C0795996 | NA | NA | orphanet |
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