Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Cortisone reductase deficiency HSD11B1 disease C1291245 Biomarker 0.55 orphanet , disgenet
Cortisone reductase deficiency H6PD disease C1291245 Biomarker 0.55 orphanet , disgenet
Cortisone reductase deficiency H6PD disease C1291245 GeneticVariation 0.55 orphanet , disgenet
Cortisone reductase deficiency HSD11B1 disease C1291245 GeneticVariation 0.55 orphanet , disgenet
Cortisone reductase deficiency H6PD disease C1291245 GermlineCausalMutation 0.55 orphanet , disgenet
Cortisone reductase deficiency HSD11B1 disease C1291245 GermlineCausalMutation 0.55 orphanet , disgenet
Cortisone reductase deficiency RNU1-1 disease C1291245 Biomarker 0.02 disgenet
Cortisone reductase deficiency POMC disease C1291245 AlteredExpression 0.02 disgenet
Cortisone reductase deficiency POMC disease C1291245 GeneticVariation 0.02 disgenet
Cortisone reductase deficiency CYP2B6 disease C1291245 Biomarker 0.01 disgenet
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