Fgfr2-related craniosynostosis
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Cutis Gyrata Syndrome of Beare And Stevenson | C1852406 | FGFR2 | Causal Pathogenic evidence from ClinVar | 7558045, 7655462, 7773284, 7874170, 7987400, 8644708, 8696350, 8946174, 8957519, 9586546, 9677057, 12000365, 12575301, 12884424, 12884434, 16061565, 16158432, 16501574, 16838304, 21438135, 22387015, 23348274, 23754559, 24127277, 25271085, 25361936, 25425289, 26362256, 27481450, 27604308, 28425981 | ClinVar |
| FGFR1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 12627230 | - |