FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: Craniofacial dysostosis type 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918501
rs121918501
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1 		0.830 GeneticVariation BEFREE We detected several pathogenic mutations in 11/33 (33%) patients with Apert syndrome (four with p.Pro253Arg; seven with p.Ser252Trp) and 8/33 (24%) patients with Crouzon syndrome (three with p.Trp290Arg, one with p.Cys342Tyr, p.Cys278Phe, p.Gln289Pro, and a novel p.Tyr340Asn mutation) and five (15%) with Pfeiffer syndrome (p.Cys342Arg, p.Pro253Arg, p.Trp290Arg, and p.Ser351Cys). 24656465 2014
dbSNP: rs121918501
rs121918501
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1 		0.830 GeneticVariation BEFREE The Fgfr2 ( W290R ) mouse model can be used as a model system to further investigate the cellular, molecular, and biochemical mechanisms of Crouzon syndrome. 22872266 2012
dbSNP: rs121918501
rs121918501
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1 		0.830 GeneticVariation UNIPROT A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases. 17803937 2007
dbSNP: rs121918501
rs121918501
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1 		0.830 GeneticVariation UNIPROT Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 11781872 2002
dbSNP: rs121918501
rs121918501
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1 		0.830 GeneticVariation UNIPROT Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients. 11380921 2001
dbSNP: rs121918501
rs121918501
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1 		0.830 GeneticVariation UNIPROT Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). 11173845 2000
dbSNP: rs121918501
rs121918501
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1 		0.830 GeneticVariation UNIPROT A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance. 10574673 1999
dbSNP: rs121918501
rs121918501
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1 		0.830 GeneticVariation UNIPROT Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. 9677057 1998
dbSNP: rs121918501
rs121918501
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1 		0.830 GeneticVariation UNIPROT The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor. 9521581 1998
dbSNP: rs121918501
rs121918501
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1 		0.830 GeneticVariation UNIPROT A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly. 9152842 1997
dbSNP: rs121918501
rs121918501
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1 		0.830 GeneticVariation UNIPROT Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus. 8946174 1996
dbSNP: rs121918501
rs121918501
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1 		0.830 GeneticVariation UNIPROT FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. 8644708 1996
dbSNP: rs121918501
rs121918501
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1 		0.830 GeneticVariation UNIPROT Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene. 8956050 1996
dbSNP: rs121918501
rs121918501
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1 		0.830 GeneticVariation BEFREE Five different mutations were found including two novel (W290G, C342W) and two previously reported, recurrent mutations for Crouzon syndrome (A344A, S354C), and one new mutation for Jackson-Weiss syndrome (C342R). 8528214 1995
dbSNP: rs121918501
rs121918501
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1 		0.830 GeneticVariation UNIPROT Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome. 7581378 1995
dbSNP: rs121918501
rs121918501
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1 		0.830 GeneticVariation UNIPROT Five different mutations were found including two novel (W290G, C342W) and two previously reported, recurrent mutations for Crouzon syndrome (A344A, S354C), and one new mutation for Jackson-Weiss syndrome (C342R). 8528214 1995
dbSNP: rs121918501
rs121918501
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1 		0.830 GeneticVariation UNIPROT Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. 7655462 1995
dbSNP: rs121918501
rs121918501
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1 		0.830 GeneticVariation UNIPROT Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. 7987400 1994
dbSNP: rs121918501
rs121918501
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1 		0.830 GeneticVariation UNIPROT Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. 7874170 1994
dbSNP: rs121918501
rs121918501
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1 		G 0.830 CausalMutation CLINVAR
dbSNP: rs121918501
rs121918501
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1 		C 0.830 CausalMutation CLINVAR