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: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		C 0.760 CausalMutation CLINVAR

dbSNP: rs77543610
rs77543610
FGFR2
CUI: C2936791
Disease: Antley-Bixler Syndrome, Autosomal Dominant
Antley-Bixler Syndrome, Autosomal Dominant 		C 0.700 CausalMutation CLINVAR

dbSNP: rs77543610
rs77543610
FGFR2
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		C 0.700 CausalMutation CLINVAR

dbSNP: rs77543610
rs77543610
FGFR2
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		C 0.700 CausalMutation CLINVAR

dbSNP: rs77543610
rs77543610
FGFR2
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		C 0.700 CausalMutation CLINVAR

dbSNP: rs77543610
rs77543610
FGFR2
CUI: C1865070
Disease: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION 		C 0.700 CausalMutation CLINVAR

dbSNP: rs77543610
rs77543610
FGFR2
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		C 0.700 CausalMutation CLINVAR

dbSNP: rs77543610
rs77543610
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		C 0.700 CausalMutation CLINVAR

dbSNP: rs77543610
rs77543610
FGFR2
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		C 0.700 CausalMutation CLINVAR

dbSNP: rs77543610
rs77543610
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.900 GeneticVariation UNIPROT 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 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 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 Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. 7719344

1995
dbSNP: rs77543610
rs77543610
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.900 GeneticVariation UNIPROT Cbl-mediated degradation of Lyn and Fyn induced by constitutive fibroblast growth factor receptor-2 activation supports osteoblast differentiation. 15190072

2004
dbSNP: rs77543610
rs77543610
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.900 GeneticVariation UNIPROT 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 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 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 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 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: C0001193
Disease: Apert syndrome
Apert syndrome 		0.900 GeneticVariation UNIPROT Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 11781872

2002
dbSNP: rs77543610
rs77543610
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.900 GeneticVariation UNIPROT In Apert syndrome, characterised by syndactyly of the hands and feet, recurrent mutations of a serine-proline dipeptide (either Ser252Trp or Pro253Arg) in the linker between the IgII and IgIII extracellular immunoglobulin-like domains, have been documented in more than 160 unrelated individuals. 9002682

1997
dbSNP: rs77543610
rs77543610
FGFR2
CUI: C0018671
Disease: Head and Neck Neoplasms
Head and Neck Neoplasms 		C 0.700 GeneticVariation CLINVAR Inhibitor-sensitive FGFR2 and FGFR3 mutations in lung squamous cell carcinoma. 23786770

2013
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 P253R fibroblast growth factor receptor-2 mutation induces RUNX2 transcript variants and calvarial osteoblast differentiation. 15389579

2005
dbSNP: rs77543610
rs77543610
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.900 GeneticVariation UNIPROT Two activating mutations, Ser-252 --> Trp and Pro-253 --> Arg, in fibroblast growth factor receptor 2 (FGFR2) account for nearly all known cases of AS. 11390973

2001