Schinzel-giedion syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Schinzel-Giedion syndrome | 798, C0265227 | SETBP1 | Causal Pathogenic evidence from ClinVar | 20436468, 21371013, 23222956, 23832012, 25028416, 25663181, 25852444, 28346496 | ClinVar |
| SKI | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |