FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918487
rs121918487
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010278
Disease:
Craniosynostosis
0.710 GeneticVariation BEFREE Here we examine integration of brain and skull in two mouse models for craniosynostosis: one carrying the FGFR2c C342Y mutation associated with Pfeiffer and Crouzon syndromes and a mouse model carrying the FGFR2 S252W mutation, one of two mutations responsible for two-thirds of Apert syndrome cases. 28790902 2017
dbSNP: rs776587763
rs776587763
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010278
Disease:
Craniosynostosis
0.710 GeneticVariation BEFREE C278F mutation in FGFR2 gene causes two different types of syndromic craniosynostosis in two Chinese patients. 28849010 2017
dbSNP: rs121918487
rs121918487
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010278
Disease:
Craniosynostosis
G 0.710 CausalMutation CLINVAR
dbSNP: rs776587763
rs776587763
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010278
Disease:
Craniosynostosis
A 0.710 CausalMutation CLINVAR
dbSNP: rs1057520044
rs1057520044
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010278
Disease:
Craniosynostosis
C 0.700 GeneticVariation CLINVAR A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases. 17803937 2007
dbSNP: rs121918506
rs121918506
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010278
Disease:
Craniosynostosis
G 0.700 GeneticVariation CLINVAR A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases. 17803937 2007
dbSNP: rs777169135
rs777169135
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010278
Disease:
Craniosynostosis
G 0.700 GeneticVariation CLINVAR A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases. 17803937 2007
dbSNP: rs121918491
rs121918491
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010278
Disease:
Craniosynostosis
T 0.700 CausalMutation CLINVAR
dbSNP: rs1564919048
rs1564919048
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010278
Disease:
Craniosynostosis
A 0.700 CausalMutation CLINVAR
dbSNP: rs79184941
rs79184941
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010278
Disease:
Craniosynostosis
0.050 GeneticVariation BEFREE Here we examine integration of brain and skull in two mouse models for craniosynostosis: one carrying the FGFR2c C342Y mutation associated with Pfeiffer and Crouzon syndromes and a mouse model carrying the FGFR2 S252W mutation, one of two mutations responsible for two-thirds of Apert syndrome cases. 28790902 2017
dbSNP: rs79184941
rs79184941
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010278
Disease:
Craniosynostosis
0.050 GeneticVariation BEFREE Here we investigate growth of the skull in two inbred mouse models each carrying one of two gain-of-function mutations in FGFR2 on neighboring amino acids (S252W and P253R) that in humans cause Apert syndrome, one of the most severe FGFR-related craniosynostosis syndromes. 24580805 2014
dbSNP: rs79184941
rs79184941
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010278
Disease:
Craniosynostosis
0.050 GeneticVariation BEFREE Apert syndrome is one of the most severe craniosynostosis that is mainly caused by either a Ser252Trp(S252W) or Pro253Arg(P253R) mutation in fibroblast growth factor receptor 2 (FGFR2). 18242159 2008
dbSNP: rs79184941
rs79184941
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010278
Disease:
Craniosynostosis
0.050 GeneticVariation BEFREE In addition, a recently identified ligand-dependent S252L/A315S double mutation in FGFR2 was shown to cause syndactyly in the absence of craniosynostosis. 15282208 2004
dbSNP: rs79184941
rs79184941
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010278
Disease:
Craniosynostosis
0.050 GeneticVariation BEFREE Apert syndrome is an autosomal dominant disease characterized by craniosynostosis and bony syndactyly associated with point mutations (S252W and P253R) in the fibroblast growth factor receptor (FGFR) 2 that cause FGFR2 activation. 15310757 2004
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010278
Disease:
Craniosynostosis
0.040 GeneticVariation BEFREE Here we investigate growth of the skull in two inbred mouse models each carrying one of two gain-of-function mutations in FGFR2 on neighboring amino acids (S252W and P253R) that in humans cause Apert syndrome, one of the most severe FGFR-related craniosynostosis syndromes. 24580805 2014
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010278
Disease:
Craniosynostosis
0.040 GeneticVariation BEFREE Apert syndrome is one of the most severe craniosynostosis that is mainly caused by either a Ser252Trp(S252W) or Pro253Arg(P253R) mutation in fibroblast growth factor receptor 2 (FGFR2). 18242159 2008
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010278
Disease:
Craniosynostosis
0.040 GeneticVariation BEFREE Apert syndrome is an autosomal dominant disease characterized by craniosynostosis and bony syndactyly associated with point mutations (S252W and P253R) in the fibroblast growth factor receptor (FGFR) 2 that cause FGFR2 activation. 15310757 2004
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010278
Disease:
Craniosynostosis
0.040 GeneticVariation BEFREE P253R and nonsyndromic craniosynostosis osteoblasts showed a marked differentiated phenotype, characterized by high alkaline phosphatase activity, increased mineralization and expression of noncollagenous matrix proteins, associated with high expression and activation of protein kinase Calpha and protein kinase Cepsilon isoenzymes. 10329600 1999
dbSNP: rs121918504
rs121918504
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010278
Disease:
Craniosynostosis
0.030 GeneticVariation BEFREE In addition, a recently identified ligand-dependent S252L/A315S double mutation in FGFR2 was shown to cause syndactyly in the absence of craniosynostosis. 15282208 2004
dbSNP: rs121918504
rs121918504
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010278
Disease:
Craniosynostosis
0.030 GeneticVariation BEFREE A further test of this hypothesis is provided by a unique family segregating two FGFR2 mutations in cis (S252L; A315S), in which severe syndactyly occurs in the absence of the craniosynostosis that typically accompanies FGFR2 mutations. 12357470 2002
dbSNP: rs121918504
rs121918504
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010278
Disease:
Craniosynostosis
0.030 GeneticVariation BEFREE A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis? 10951518 2000
dbSNP: rs121918501
rs121918501
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010278
Disease:
Craniosynostosis
0.010 GeneticVariation BEFREE Several of the defects observed in the Fgfr2 (W290R) homozygous mouse mutant are attributable to a loss-of-function mechanism in contrast to the frequently reported gain-of-function receptor function associated with mutated FGF receptors in craniosynostosis. 22872266 2012
dbSNP: rs1224606327
rs1224606327
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010278
Disease:
Craniosynostosis
0.010 GeneticVariation BEFREE Functional characterization of a novel FGFR2 mutation, E731K, in craniosynostosis. 21928350 2012
dbSNP: rs761012674
rs761012674
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010278
Disease:
Craniosynostosis
0.010 GeneticVariation BEFREE Here, we report a novel mutation in exon 8 (IIIc) of FGFR3, p.Ala334Thr, in a young boy with mild craniosynostosis. 22038757 2011
dbSNP: rs765241522
rs765241522
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010278
Disease:
Craniosynostosis
0.010 GeneticVariation BEFREE The associated of FGFR3 mutations with craniosynostosis has been restricted to three mutations, the common p.Pro250Arg in Muenke syndrome, p.Ala391Glu in Crouzon syndrome with acanthosis nigricans, and p.Pro250Leu identified in a family with isolated craniosynostosis. 22038757 2011