Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Adrenal hyperplasia, congenital, type 5 CYP17A1 disease C0268285 AlteredExpression 0.8 orphanet , disgenet
Adrenal hyperplasia, congenital, type 5 CYP17A1 disease C0268285 CausalMutation 0.8 orphanet , disgenet
Adrenal hyperplasia, congenital, type 5 CYP17A1 disease C0268285 GeneticVariation 0.8 orphanet , disgenet
Adrenal hyperplasia, congenital, type 5 CYP17A1 disease C0268285 GermlineCausalMutation 0.8 orphanet , disgenet
Adrenal hyperplasia, congenital, type 5 CYP17A1 disease C0268285 Biomarker 0.8 orphanet , disgenet
Adrenal hyperplasia, congenital, type 5 CYB5A disease C0268285 GermlineCausalMutation 0.3 disgenet
Adrenal hyperplasia, congenital, type 5 WBP1L disease C0268285 CausalMutation 0.1 disgenet
Adrenal hyperplasia, congenital, type 5 WBP1L disease C0268285 GeneticVariation 0.1 disgenet
Adrenal hyperplasia, congenital, type 5 CYP2B6 disease C0268285 AlteredExpression 0.01 disgenet
Adrenal hyperplasia, congenital, type 5 AMH disease C0268285 Biomarker 0.01 disgenet
Adrenal hyperplasia, congenital, type 5 PPIG disease C0268285 GeneticVariation 0.01 disgenet
Adrenal hyperplasia, congenital, type 5 POMC disease C0268285 GeneticVariation 0.01 disgenet
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