| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Pontocerebellar Hypoplasia Type 3 | PCLO | disease | C1842687 | Biomarker | 0.7 | orphanet , disgenet |
| Pontocerebellar Hypoplasia Type 3 | PCLO | disease | C1842687 | GermlineCausalMutation | 0.7 | orphanet , disgenet |
| Pontocerebellar Hypoplasia Type 3 | PCLO | disease | C1842687 | CausalMutation | 0.7 | orphanet , disgenet |
| Pontocerebellar Hypoplasia Type 3 | TP53 | disease | C1842687 | Biomarker | 0.01 | disgenet |
| Pontocerebellar Hypoplasia Type 3 | MED17 | NA | C1842687 | NA | NA | orphanet |
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