Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		1.000 CausalMutation CLINVAR Mutations in the FGFR2 gene in Mexican patients with Apert syndrome. 25867380

2015
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		1.000 CausalMutation CLINVAR The C342R mutation in FGFR2 causes Crouzon syndrome with elbow deformity. 25759925

2015
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		1.000 CausalMutation CLINVAR A Ser252Trp mutation in fibroblast growth factor receptor 2 (FGFR2) mimicking human Apert syndrome reveals an essential role for FGF signaling in the regulation of endochondral bone formation. 24489893

2014
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		1.000 CausalMutation CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277

2013
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		1.000 CausalMutation CLINVAR The Fgfr2(S252W/+) mutation in mice retards mandible formation and reduces bone mass as in human Apert syndrome. 23495007

2013
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		1.000 CausalMutation CLINVAR Mesodermal expression of Fgfr2S252W is necessary and sufficient to induce craniosynostosis in a mouse model of Apert syndrome. 22664175

2012
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		1.000 CausalMutation CLINVAR Screening of patients with craniosynostosis: molecular strategy. 12884424

2003
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		1.000 CausalMutation CLINVAR Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome. 11390973

2001
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		1.000 CausalMutation CLINVAR The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor. 9521581

1998
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		1.000 CausalMutation CLINVAR Mutation of the fibroblast growth factor receptor 2 gene in Japanese patients with Apert syndrome. 9462761

1998
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		1.000 CausalMutation CLINVAR Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. 8651276

1996
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		1.000 CausalMutation CLINVAR Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. 7719344

1995
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		1.000 CausalMutation CLINVAR Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. 7795583

1995
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		1.000 CausalMutation CLINVAR Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. 7987400

1994
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		1.000 GeneticVariation CLINVAR