Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918498
rs121918498
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.810 GeneticVariation UNIPROT Cbl-mediated degradation of Lyn and Fyn induced by constitutive fibroblast growth factor receptor-2 activation supports osteoblast differentiation. 15190072

2004
dbSNP: rs121918498
rs121918498
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.810 GeneticVariation UNIPROT Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 11781872

2002
dbSNP: rs121918498
rs121918498
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.810 GeneticVariation UNIPROT Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome. 11390973

2001
dbSNP: rs121918498
rs121918498
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.810 GeneticVariation UNIPROT Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. 9677057

1998
dbSNP: rs121918498
rs121918498
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.810 GeneticVariation UNIPROT Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with Apert syndrome. 9452027

1998
dbSNP: rs121918498
rs121918498
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.810 GeneticVariation UNIPROT The observation that the Ser252Phe mutation causes Apert syndrome, whereas the other single or double substitutions are associated with milder or normal phenotypes, highlights the exquisitely specific molecular pathogenesis of the limb and craniofacial abnormalities associated with Apert syndrome. 9002682

1997
dbSNP: rs121918498
rs121918498
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.810 GeneticVariation UNIPROT Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. 7719344

1995
dbSNP: rs121918498
rs121918498
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.810 GeneticVariation UNIPROT Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. 7668257

1995
dbSNP: rs121918498
rs121918498
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		AA 0.810 GeneticVariation CLINVAR

dbSNP: rs121918498
rs121918498
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		AA 0.810 CausalMutation CLINVAR