Saethre-chotzen syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Saethre-Chotzen syndrome | 794 | FGFR2 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| FGFR3 | Causal Pathogenic evidence from ClinVar | - | ClinVar | ||
| TWIST1 | Causal Pathogenic evidence from ClinVar | - | ClinVar | ||
| Saethre-Chotzen Syndrome | C0175699 | FGFR2 | Causal Pathogenic evidence from ClinVar | 9002682, 9502772, 9585583, 10425034, 17694057, 19186770, 22387015, 27604308 | ClinVar |
| FGFR3 | Causal Pathogenic evidence from ClinVar | - | ClinVar | ||
| TWIST1 | Causal Pathogenic evidence from ClinVar | 8988166, 8988167, 9585583, 9792856, 10649491, 11754069, 11992718, 14513358, 15923834, 16251895, 17343269, 17693524, 19373776, 19483581, 19755431, 20184424, 20643727, 21520333, 23354436, 24127277, 25271085 | ClinVar |