Congenital adrenal hyperplasia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| CONGENITAL ADRENAL HYPERPLASIA | CYP11A1 | Causal | — | Disgenet | |
| CYP11B1 | Causal | — | Disgenet | ||
| CYP17A1 | Causal | — | Disgenet | ||
| CYP21A2 | Causal | — | Disgenet | ||
| HSD3B2 | Causal | — | Disgenet | ||
| POR | Causal | — | Disgenet | ||
| STAR | Unknown | — | Disgenet | ||
| TNXB | Unknown | — | Disgenet | ||
| CONGENITAL ADRENAL HYPERPLASIA DUE TO 11-BETA-HYDROXYLASE DEFICIENCY | CYP11B1 | Unknown | — | CTD Disgenet GenCC Orphanet | |
| CONGENITAL ADRENAL HYPERPLASIA DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY | CYP17A1 | Unknown | Disgenet Orphanet | ||
| CONGENITAL ADRENAL HYPERPLASIA DUE TO 21 HYDROXYLASE DEFICIENCY | CYP11A1 | Unknown | — | Disgenet | |
| CYP17A1 | Unknown | — | Disgenet | ||
| CYP19A1 | Unknown | — | Disgenet | ||
| CYP21A2 | Unknown | — | CTD Disgenet | ||
| MSH2 | Unknown | — | Disgenet | ||
| TNXB | Unknown | — | Disgenet | ||
| CONGENITAL ADRENAL HYPERPLASIA DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY | HSD3B2 | Unknown | GWAS catalog Orphanet | ||
| CONGENITAL ADRENAL HYPERPLASIA DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY | POR | Causal | ClinVar GWAS catalog Orphanet | ||
| CONGENITAL ADRENAL HYPOPLASIA, X-LINKED |
|
NR0B1 | Causal | — | ClinVar |