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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