Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Olivopontocerebellar hypoplasia, fetal-onset | TSEN54 | disease | C1857762 | CausalMutation | 0.61 | disgenet |
Olivopontocerebellar hypoplasia, fetal-onset | TSEN54 | disease | C1857762 | GeneticVariation | 0.61 | disgenet |
Olivopontocerebellar hypoplasia, fetal-onset | TSEN54 | disease | C1857762 | GermlineCausalMutation | 0.61 | disgenet |
Olivopontocerebellar hypoplasia, fetal-onset | TSEN54 | disease | C1857762 | Biomarker | 0.61 | disgenet |
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