Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Dystonia, Dopa-responsive GCH1 disease C1851920 GeneticVariation 0.8 orphanet , disgenet
Dystonia, Dopa-responsive GCH1 disease C1851920 Biomarker 0.8 orphanet , disgenet
Dystonia, Dopa-responsive GCH1 disease C1851920 GermlineCausalMutation 0.8 orphanet , disgenet
Dystonia, Dopa-responsive GCH1 disease C1851920 AlteredExpression 0.8 orphanet , disgenet
Dystonia, Dopa-responsive GCH1 disease C1851920 PosttranslationalModification 0.8 orphanet , disgenet
Dystonia, Dopa-responsive GCH1 disease C1851920 CausalMutation 0.8 orphanet , disgenet
Dystonia, Dopa-responsive TH disease C1851920 AlteredExpression 0.4 disgenet
Dystonia, Dopa-responsive TH disease C1851920 GeneticVariation 0.4 disgenet
Dystonia, Dopa-responsive TH disease C1851920 Biomarker 0.4 disgenet
Dystonia, Dopa-responsive SPR disease C1851920 Biomarker 0.37 disgenet
Dystonia, Dopa-responsive SPR disease C1851920 GeneticVariation 0.37 disgenet
Dystonia, Dopa-responsive NIF3L1 disease C1851920 Biomarker 0.1 disgenet
Dystonia, Dopa-responsive NIF3L1 disease C1851920 AlteredExpression 0.1 disgenet
Dystonia, Dopa-responsive NIF3L1 disease C1851920 GeneticVariation 0.1 disgenet
Dystonia, Dopa-responsive HPD disease C1851920 Biomarker 0.08 disgenet
Dystonia, Dopa-responsive HPD disease C1851920 GeneticVariation 0.08 disgenet
Dystonia, Dopa-responsive SLC6A3 disease C1851920 GeneticVariation 0.04 disgenet
Dystonia, Dopa-responsive SLC6A3 disease C1851920 Biomarker 0.04 disgenet
Dystonia, Dopa-responsive SLC18A2 disease C1851920 AlteredExpression 0.02 disgenet
Dystonia, Dopa-responsive SLC18A2 disease C1851920 Biomarker 0.02 disgenet
Dystonia, Dopa-responsive PRKN disease C1851920 GeneticVariation 0.02 disgenet
Dystonia, Dopa-responsive SGCE disease C1851920 Biomarker 0.02 disgenet
Dystonia, Dopa-responsive SGCE disease C1851920 GeneticVariation 0.02 disgenet
Dystonia, Dopa-responsive DDC disease C1851920 AlteredExpression 0.01 disgenet
Dystonia, Dopa-responsive CIT disease C1851920 Biomarker 0.01 disgenet
Dystonia, Dopa-responsive DRD3 disease C1851920 Biomarker 0.01 disgenet
Dystonia, Dopa-responsive DRD2 disease C1851920 Biomarker 0.01 disgenet
Dystonia, Dopa-responsive CTSC disease C1851920 Biomarker 0.01 disgenet
Dystonia, Dopa-responsive GNAL disease C1851920 Biomarker 0.01 disgenet
Dystonia, Dopa-responsive ATM disease C1851920 GeneticVariation 0.01 disgenet
Dystonia, Dopa-responsive PLAG1 disease C1851920 GeneticVariation 0.01 disgenet
Dystonia, Dopa-responsive PROS1 disease C1851920 GeneticVariation 0.01 disgenet
Dystonia, Dopa-responsive MTG1 disease C1851920 Biomarker 0.01 disgenet
Dystonia, Dopa-responsive IGAN1 disease C1851920 Biomarker 0.01 disgenet
Dystonia, Dopa-responsive PARK3 disease C1851920 GeneticVariation 0.01 disgenet
Dystonia, Dopa-responsive PAH disease C1851920 AlteredExpression 0.01 disgenet
Dystonia, Dopa-responsive SOX6 disease C1851920 GeneticVariation 0.01 disgenet
Dystonia, Dopa-responsive TOR1A disease C1851920 GeneticVariation 0.01 disgenet
Dystonia, Dopa-responsive ATXN3 disease C1851920 Biomarker 0.01 disgenet
Dystonia, Dopa-responsive PSAT1 disease C1851920 GeneticVariation 0.01 disgenet
Dystonia, Dopa-responsive NPEPPS disease C1851920 GeneticVariation 0.01 disgenet
Dystonia, Dopa-responsive KLK3 disease C1851920 GeneticVariation 0.01 disgenet
Dystonia, Dopa-responsive IMPDH2 NA C1851920 NA NA orphanet
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