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: rs121918487
rs121918487
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010278
Disease:
Craniosynostosis 		0.710 GeneticVariation BEFREE Here we examine integration of brain and skull in two mouse models for craniosynostosis: one carrying the FGFR2c C342Y mutation associated with Pfeiffer and Crouzon syndromes and a mouse model carrying the FGFR2 S252W mutation, one of two mutations responsible for two-thirds of Apert syndrome cases. 28790902 2017
dbSNP: rs121918487
rs121918487
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010278
Disease:
Craniosynostosis 		G 0.710 CausalMutation CLINVAR