| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Pontocerebellar Hypoplasia Type 2 | TSEN2 | disease | C2932714 | GermlineCausalMutation | 0.31 | orphanet , disgenet |
| Pontocerebellar Hypoplasia Type 2 | TSEN2 | disease | C2932714 | Biomarker | 0.31 | orphanet , disgenet |
| Pontocerebellar Hypoplasia Type 2 | SEPSECS | disease | C2932714 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Pontocerebellar Hypoplasia Type 2 | TSEN34 | disease | C2932714 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Pontocerebellar Hypoplasia Type 2 | TSEN15 | disease | C2932714 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Pontocerebellar Hypoplasia Type 2 | TSEN54 | disease | C2932714 | GeneticVariation | 0.03 | orphanet , disgenet |
| Pontocerebellar Hypoplasia Type 2 | TRIP13 | disease | C2932714 | Biomarker | 0.01 | disgenet |
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