Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Pontocerebellar Hypoplasia TOE1 disease C0266468 Biomarker 0.51 orphanet , disgenet
Pontocerebellar Hypoplasia TOE1 disease C0266468 GeneticVariation 0.51 orphanet , disgenet
Pontocerebellar Hypoplasia EXOSC3 disease C0266468 GeneticVariation 0.38 disgenet
Pontocerebellar Hypoplasia VRK1 disease C0266468 Biomarker 0.38 disgenet
Pontocerebellar Hypoplasia TSEN54 disease C0266468 GeneticVariation 0.38 disgenet
Pontocerebellar Hypoplasia VRK1 disease C0266468 GeneticVariation 0.38 disgenet
Pontocerebellar Hypoplasia TSEN54 disease C0266468 Biomarker 0.38 disgenet
Pontocerebellar Hypoplasia EXOSC3 disease C0266468 Biomarker 0.38 disgenet
Pontocerebellar Hypoplasia RARS2 disease C0266468 GeneticVariation 0.37 disgenet
Pontocerebellar Hypoplasia RARS2 disease C0266468 Biomarker 0.37 disgenet
Pontocerebellar Hypoplasia CASK disease C0266468 Biomarker 0.33 disgenet
Pontocerebellar Hypoplasia CASK disease C0266468 GeneticVariation 0.33 disgenet
Pontocerebellar Hypoplasia CHMP1A disease C0266468 Biomarker 0.32 orphanet , disgenet
Pontocerebellar Hypoplasia AMPD2 disease C0266468 Biomarker 0.32 orphanet , disgenet
Pontocerebellar Hypoplasia CHMP1A disease C0266468 GeneticVariation 0.32 orphanet , disgenet
Pontocerebellar Hypoplasia AMPD2 disease C0266468 GeneticVariation 0.32 orphanet , disgenet
Pontocerebellar Hypoplasia TSEN34 disease C0266468 Biomarker 0.31 disgenet
Pontocerebellar Hypoplasia TSEN34 disease C0266468 GeneticVariation 0.31 disgenet
Pontocerebellar Hypoplasia TSEN2 disease C0266468 Biomarker 0.3 disgenet
Pontocerebellar Hypoplasia CLP1 disease C0266468 Biomarker 0.3 orphanet , disgenet
Pontocerebellar Hypoplasia SEPSECS disease C0266468 Biomarker 0.3 disgenet
Pontocerebellar Hypoplasia VPS53 disease C0266468 Biomarker 0.3 disgenet
Pontocerebellar Hypoplasia TRIP13 disease C0266468 Biomarker 0.04 disgenet
Pontocerebellar Hypoplasia TRIP13 disease C0266468 GeneticVariation 0.04 disgenet
Pontocerebellar Hypoplasia TRIP13 disease C0266468 AlteredExpression 0.04 disgenet
Pontocerebellar Hypoplasia SLC25A46 disease C0266468 GeneticVariation 0.03 disgenet
Pontocerebellar Hypoplasia SLC25A46 disease C0266468 Biomarker 0.03 disgenet
Pontocerebellar Hypoplasia TBC1D23 disease C0266468 GeneticVariation 0.03 disgenet
Pontocerebellar Hypoplasia KIF26B disease C0266468 Biomarker 0.01 disgenet
Pontocerebellar Hypoplasia VLDLR disease C0266468 Biomarker 0.01 disgenet
Pontocerebellar Hypoplasia ITGA2B disease C0266468 GeneticVariation 0.01 disgenet
Pontocerebellar Hypoplasia EXOSC8 disease C0266468 GeneticVariation 0.01 disgenet
Pontocerebellar Hypoplasia AIMP1 disease C0266468 GeneticVariation 0.01 disgenet
Pontocerebellar Hypoplasia COASY disease C0266468 GeneticVariation 0.01 disgenet
Pontocerebellar Hypoplasia AKT1 disease C0266468 Biomarker 0.01 disgenet
Pontocerebellar Hypoplasia BRCA2 disease C0266468 GeneticVariation 0.01 disgenet
Pontocerebellar Hypoplasia DKC1 disease C0266468 GeneticVariation 0.01 disgenet
Pontocerebellar Hypoplasia PCLO disease C0266468 Biomarker 0.01 disgenet
Pontocerebellar Hypoplasia MPP6 disease C0266468 GeneticVariation 0.01 disgenet
Pontocerebellar Hypoplasia CLAM disease C0266468 GeneticVariation 0.01 disgenet
Pontocerebellar Hypoplasia TSEN15 disease C0266468 Biomarker 0.01 disgenet
Pontocerebellar Hypoplasia ATAD3A disease C0266468 GeneticVariation 0.01 disgenet
Pontocerebellar Hypoplasia RBM7 disease C0266468 Biomarker 0.01 disgenet
Pontocerebellar Hypoplasia ITPR1 disease C0266468 GeneticVariation 0.01 disgenet
Pontocerebellar Hypoplasia MINPP1 NA C0266468 NA NA orphanet
Pontocerebellar Hypoplasia TUBB3 NA C0266468 NA NA orphanet
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