FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: Craniofacial Dysostosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519043
rs1057519043
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010273
Disease:
Craniofacial Dysostosis 		0.010 GeneticVariation BEFREE Our study further identified G338R FGFR2 mutation (c1012G > C) lead to inherited Crouzon syndrome. 29848297 2018