FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: Craniosynostosis ×
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: C0010278
Disease:
Craniosynostosis 		0.010 GeneticVariation BEFREE Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. 9279753 1997