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: rs374608214
rs374608214
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010273
Disease:
Craniofacial Dysostosis 		0.010 GeneticVariation BEFREE Two patients labeled as having Crouzon syndrome had the Pro250Arg mutation in exon 7 of FGFR3. 10541159 1999