Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Pontocerebellar Hypoplasia Type 1 VRK1 disease C1843504 Biomarker 0.72 orphanet , disgenet
Pontocerebellar Hypoplasia Type 1 VRK1 disease C1843504 GeneticVariation 0.72 orphanet , disgenet
Pontocerebellar Hypoplasia Type 1 VRK1 disease C1843504 GermlineCausalMutation 0.72 orphanet , disgenet
Pontocerebellar Hypoplasia Type 1 VRK1 disease C1843504 CausalMutation 0.72 orphanet , disgenet
Pontocerebellar Hypoplasia Type 1 EXOSC3 disease C1843504 Biomarker 0.68 orphanet , disgenet
Pontocerebellar Hypoplasia Type 1 EXOSC3 disease C1843504 GeneticVariation 0.68 orphanet , disgenet
Pontocerebellar Hypoplasia Type 1 EXOSC3 disease C1843504 GermlineCausalMutation 0.68 orphanet , disgenet
Pontocerebellar Hypoplasia Type 1 RARS2 disease C1843504 GermlineCausalMutation 0.31 disgenet
Pontocerebellar Hypoplasia Type 1 RARS2 disease C1843504 GeneticVariation 0.31 disgenet
Pontocerebellar Hypoplasia Type 1 EXOSC8 disease C1843504 GermlineCausalMutation 0.3 orphanet , disgenet
Pontocerebellar Hypoplasia Type 1 TSEN54 disease C1843504 GermlineCausalMutation 0.3 disgenet
Pontocerebellar Hypoplasia Type 1 EXOSC9 disease C1843504 GermlineCausalMutation 0.3 orphanet , disgenet
Pontocerebellar Hypoplasia Type 1 CHMP1A disease C1843504 CausalMutation 0.1 disgenet
Pontocerebellar Hypoplasia Type 1 ASXL3 disease C1843504 GeneticVariation 0.01 disgenet
Pontocerebellar Hypoplasia Type 1 KIF26B disease C1843504 GeneticVariation 0.01 disgenet
Pontocerebellar Hypoplasia Type 1 AGTPBP1 disease C1843504 Biomarker 0.01 orphanet , disgenet
Pontocerebellar Hypoplasia Type 1 SLC25A46 NA C1843504 NA NA orphanet
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