Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Dimauro disease PGAM2 disease C0268149 CausalMutation 0.73 orphanet , disgenet
Dimauro disease PGAM2 disease C0268149 Biomarker 0.73 orphanet , disgenet
Dimauro disease PGAM2 disease C0268149 GeneticVariation 0.73 orphanet , disgenet
Dimauro disease PGAM2 disease C0268149 GermlineCausalMutation 0.73 orphanet , disgenet
Dimauro disease DBNL disease C0268149 GeneticVariation 0.1 disgenet
Dimauro disease DBNL disease C0268149 CausalMutation 0.1 disgenet
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