Oculomaxillofacial dysostosis
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Oculomaxillofacial dysostosis | C1838348 | SPECC1L | Causal Pathogenic evidence from ClinVar | 21703590, 25412741, 26111080 | ClinVar |
| SPECC1L-ADORA2A | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |