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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