| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency | CYP11B1 | disease | C0268292 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
| Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency | CYP11B1 | disease | C0268292 | GeneticVariation | 0.8 | orphanet , disgenet |
| Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency | CYP11B1 | disease | C0268292 | Biomarker | 0.8 | orphanet , disgenet |
| Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency | CYP11B1 | disease | C0268292 | AlteredExpression | 0.8 | orphanet , disgenet |
| Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency | CYP11B1 | disease | C0268292 | CausalMutation | 0.8 | orphanet , disgenet |
| Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency | GML | disease | C0268292 | GeneticVariation | 0.1 | disgenet |
| Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency | GML | disease | C0268292 | CausalMutation | 0.1 | disgenet |
| Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency | CYP11B2 | disease | C0268292 | GeneticVariation | 0.03 | disgenet |
| Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency | REN | disease | C0268292 | GeneticVariation | 0.01 | disgenet |
| Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency | TXNRD1 | disease | C0268292 | GeneticVariation | 0.01 | disgenet |
| Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency | LOC110673971 | disease | C0268292 | Biomarker | 0.01 | disgenet |
| Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency | CYP21A2 | disease | C0268292 | GeneticVariation | 0.01 | disgenet |
| Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency | POMC | disease | C0268292 | Biomarker | 0.01 | disgenet |
| Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency | CYP2B6 | disease | C0268292 | AlteredExpression | 0.01 | disgenet |
| Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency | PPIG | disease | C0268292 | GeneticVariation | 0.01 | disgenet |
| Adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency | HSD17B6 | disease | C0268292 | GeneticVariation | 0.01 | disgenet |
| click here to return to the previous page | ||||||