Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Pyruvate Dehydrogenase Complex Deficiency Disease PDHA1 disease C0034345 GeneticVariation 0.9 disgenet
Pyruvate Dehydrogenase Complex Deficiency Disease PDHA1 disease C0034345 Biomarker 0.9 disgenet
Pyruvate Dehydrogenase Complex Deficiency Disease PDHA1 disease C0034345 AlteredExpression 0.9 disgenet
Pyruvate Dehydrogenase Complex Deficiency Disease PDHA1 disease C0034345 CausalMutation 0.9 disgenet
Pyruvate Dehydrogenase Complex Deficiency Disease PDHA1 disease C0034345 GermlineCausalMutation 0.9 disgenet
Pyruvate Dehydrogenase Complex Deficiency Disease DLAT disease C0034345 Biomarker 0.31 disgenet
Pyruvate Dehydrogenase Complex Deficiency Disease LONP1 disease C0034345 GeneticVariation 0.31 disgenet
Pyruvate Dehydrogenase Complex Deficiency Disease LONP1 disease C0034345 GermlineCausalMutation 0.31 disgenet
Pyruvate Dehydrogenase Complex Deficiency Disease PDHB disease C0034345 Biomarker 0.31 disgenet
Pyruvate Dehydrogenase Complex Deficiency Disease PDHB disease C0034345 GeneticVariation 0.31 disgenet
Pyruvate Dehydrogenase Complex Deficiency Disease PDHX disease C0034345 Biomarker 0.04 disgenet
Pyruvate Dehydrogenase Complex Deficiency Disease PDHX disease C0034345 GeneticVariation 0.04 disgenet
Pyruvate Dehydrogenase Complex Deficiency Disease PDP1 disease C0034345 Biomarker 0.03 disgenet
Pyruvate Dehydrogenase Complex Deficiency Disease PDP1 disease C0034345 GeneticVariation 0.03 disgenet
Pyruvate Dehydrogenase Complex Deficiency Disease PDHA2 disease C0034345 GeneticVariation 0.01 disgenet
Pyruvate Dehydrogenase Complex Deficiency Disease DHDDS disease C0034345 Biomarker 0.01 disgenet
Pyruvate Dehydrogenase Complex Deficiency Disease ECHS1 disease C0034345 Biomarker 0.01 disgenet
Pyruvate Dehydrogenase Complex Deficiency Disease DLD disease C0034345 Biomarker 0.01 disgenet
Pyruvate Dehydrogenase Complex Deficiency Disease PDK4 disease C0034345 AlteredExpression 0.01 disgenet
Pyruvate Dehydrogenase Complex Deficiency Disease ACE disease C0034345 GeneticVariation 0.01 disgenet
Pyruvate Dehydrogenase Complex Deficiency Disease GSTZ1 disease C0034345 Biomarker 0.01 disgenet
Pyruvate Dehydrogenase Complex Deficiency Disease LIPT1 disease C0034345 Biomarker 0.01 disgenet
Pyruvate Dehydrogenase Complex Deficiency Disease PPP1R2C disease C0034345 GeneticVariation 0.01 disgenet
Pyruvate Dehydrogenase Complex Deficiency Disease PDX1 disease C0034345 GeneticVariation 0.01 disgenet
Pyruvate Dehydrogenase Complex Deficiency Disease SLC9A6 disease C0034345 GeneticVariation 0.01 disgenet
Pyruvate Dehydrogenase Complex Deficiency Disease CHPT1 disease C0034345 Biomarker 0.01 disgenet
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