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: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation CLINVAR Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis. 29037998

2018
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 CausalMutation CLINVAR Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses. 27683237

2017
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 CausalMutation CLINVAR Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 26380986

2015
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 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: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation CLINVAR Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review. 24656465

2014
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 CausalMutation CLINVAR FGFR1 and FGFR2 mutations in Pfeiffer syndrome. 23348274

2013
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 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: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 CausalMutation CLINVAR p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients. 23546041

2013
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 CausalMutation CLINVAR Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations. 18391498

2008
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 CausalMutation CLINVAR Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome. 16418739

2006
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 CausalMutation CLINVAR Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse. 15975938

2005
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 CausalMutation CLINVAR A Ser252Trp [corrected] substitution in mouse fibroblast growth factor receptor 2 (Fgfr2) results in craniosynostosis. 14499350

2003
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation CLINVAR Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 11781872

2002
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 CausalMutation CLINVAR To elucidate the mechanism by which these substitutions cause AS, we determined the crystal structures of these two FGFR2 mutants in complex with fibroblast growth factor 2 (FGF2). 11390973

2001
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation CLINVAR Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 10633130

2000
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 CausalMutation CLINVAR Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome. 11121055

2000
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation CLINVAR Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. 10394936

1999
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 CausalMutation CLINVAR Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. 10406670

1999
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation 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: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation CLINVAR Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. 9677057

1998
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 CausalMutation CLINVAR Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus. 8946174

1996
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 CausalMutation CLINVAR We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied. 7719344

1995
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation CLINVAR Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome. 7581378

1995
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 CausalMutation CLINVAR Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. 7874170

1994