Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Pyruvate Dehydrogenase E3-Binding Protein Deficiency PDHX disease C1855553 CausalMutation 0.7 orphanet , disgenet
Pyruvate Dehydrogenase E3-Binding Protein Deficiency PDHX disease C1855553 Biomarker 0.7 orphanet , disgenet
Pyruvate Dehydrogenase E3-Binding Protein Deficiency PDHX disease C1855553 GermlineCausalMutation 0.7 orphanet , disgenet
Pyruvate Dehydrogenase E3-Binding Protein Deficiency PDHX disease C1855553 GeneticVariation 0.7 orphanet , disgenet
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