Cortisone reductase deficiency
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Cortisone reductase deficiency | C1291245 | H6PD | Causal Pathogenic evidence from ClinVar | 18628520 | ClinVar |
| HSD11B1 | Causal Pathogenic evidence from ClinVar | 21325058, 25526675 | ClinVar | ||
| CORTISONE REDUCTASE DEFICIENCY 1 | C3551716 | H6PD | Causal Pathogenic evidence from ClinVar | 12858176, 17974005, 18628520, 23132696 | ClinVar |
| CORTISONE REDUCTASE DEFICIENCY 2 | C3553382 | HSD11B1 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| HSD11B1-AS1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |