| 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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