Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77543610
rs77543610
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		C 0.710 CausalMutation CLINVAR Mutations in the FGFR2 gene in Mexican patients with Apert syndrome. 25867380

2015
dbSNP: rs77543610
rs77543610
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		C 0.710 CausalMutation CLINVAR We detected several pathogenic mutations in 11/33 (33%) patients with Apert syndrome (four with p.Pro253Arg; seven with p.Ser252Trp) and 8/33 (24%) patients with Crouzon syndrome (three with p.Trp290Arg, one with p.Cys342Tyr, p.Cys278Phe, p.Gln289Pro, and a novel p.Tyr340Asn mutation) and five (15%) with Pfeiffer syndrome (p.Cys342Arg, p.Pro253Arg, p.Trp290Arg, and p.Ser351Cys). 24656465

2014
dbSNP: rs77543610
rs77543610
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		C 0.710 CausalMutation CLINVAR Dura in the pathogenesis of syndromic craniosynostosis: fibroblast growth factor receptor 2 mutations in dural cells promote osteogenic proliferation and differentiation of osteoblasts. 20489451

2010
dbSNP: rs77543610
rs77543610
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		C 0.710 CausalMutation CLINVAR Differential effects of FGFR2 mutation in ophthalmic findings in Apert syndrome. 17251833

2007
dbSNP: rs77543610
rs77543610
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		C 0.710 CausalMutation CLINVAR P253R fibroblast growth factor receptor-2 mutation induces RUNX2 transcript variants and calvarial osteoblast differentiation. 15389579

2005
dbSNP: rs77543610
rs77543610
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		C 0.710 CausalMutation CLINVAR Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. 9677057

1998
dbSNP: rs77543610
rs77543610
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		C 0.710 CausalMutation CLINVAR Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand. 9700203

1998
dbSNP: rs77543610
rs77543610
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		C 0.710 CausalMutation CLINVAR Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. 8651276

1996
dbSNP: rs77543610
rs77543610
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		C 0.710 CausalMutation CLINVAR Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. 7668257

1995
dbSNP: rs77543610
rs77543610
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		C 0.710 CausalMutation CLINVAR Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. 7719344

1995