| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Pontocerebellar Hypoplasia Type 2A | TSEN54 | disease | C1848526 | GeneticVariation | 0.71 | disgenet |
| Pontocerebellar Hypoplasia Type 2A | TSEN54 | disease | C1848526 | Biomarker | 0.71 | disgenet |
| Pontocerebellar Hypoplasia Type 2A | TSEN54 | disease | C1848526 | CausalMutation | 0.71 | disgenet |
| Pontocerebellar Hypoplasia Type 2A | TSEN2 | disease | C1848526 | CausalMutation | 0.1 | disgenet |
| Pontocerebellar Hypoplasia Type 2A | TSEN34 | disease | C1848526 | CausalMutation | 0.1 | disgenet |
| Pontocerebellar Hypoplasia Type 2A | MKRN2OS | disease | C1848526 | CausalMutation | 0.1 | disgenet |
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