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

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 CausalMutation CLINVAR FGFR-associated craniosynostosis syndromes and gastrointestinal defects. 27481450

2016
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 CausalMutation CLINVAR FGFR2 mutation in 46,XY sex reversal with craniosynostosis. 26362256

2015
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 CausalMutation CLINVAR Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. 25271085

2015
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 GeneticVariation CLINVAR A novel mutation in FGFR2. 25425289

2015
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 CausalMutation CLINVAR Identification of causative mutation in a Korean family with Crouzon syndrome using whole exome sequencing. 25361936

2014
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 GeneticVariation CLINVAR Predicting the impact of deleterious mutations in the protein kinase domain of FGFR2 in the context of function, structure, and pathogenesis--a bioinformatics approach. 23754559

2013
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 GeneticVariation 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: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 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: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 CausalMutation CLINVAR FGFR1 and FGFR2 mutations in Pfeiffer syndrome. 23348274

2013
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 CausalMutation CLINVAR Clinical dividends from the molecular genetic diagnosis of craniosynostosis. 16838304

2006