12p12.1 microdeletion syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| 12p12.1 microdeletion syndrome | 313884, C4755260 | SOX5 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 22290657 | - |