Campomelic dysplasia with autosomal sex reversal
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL | C1842462 | SOX9 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| SOX9-AS1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |