Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Parkinsonism-Dystonia, Infantile SLC6A3 disease C2751067 GermlineCausalMutation 0.8 orphanet , disgenet
Parkinsonism-Dystonia, Infantile SLC6A3 disease C2751067 Biomarker 0.8 orphanet , disgenet
Parkinsonism-Dystonia, Infantile SLC6A3 disease C2751067 GeneticVariation 0.8 orphanet , disgenet
Parkinsonism-Dystonia, Infantile PINK1 disease C2751067 GeneticVariation 0.01 disgenet
Parkinsonism-Dystonia, Infantile TAF1 disease C2751067 GeneticVariation 0.01 disgenet
Parkinsonism-Dystonia, Infantile PRKRA disease C2751067 GeneticVariation 0.01 disgenet
Parkinsonism-Dystonia, Infantile AAVS1 disease C2751067 Biomarker 0.01 disgenet
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