FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 93; N. variants: 98
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome 		0.900 GeneticVariation UNIPROT Cbl-mediated degradation of Lyn and Fyn induced by constitutive fibroblast growth factor receptor-2 activation supports osteoblast differentiation. 15190072 2004
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome 		0.900 GeneticVariation UNIPROT Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 11781872 2002
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome 		0.900 GeneticVariation UNIPROT Two activating mutations, Ser-252 --> Trp and Pro-253 --> Arg, in fibroblast growth factor receptor 2 (FGFR2) account for nearly all known cases of AS. 11390973 2001
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome 		0.900 GeneticVariation UNIPROT Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. 9677057 1998
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome 		0.900 GeneticVariation UNIPROT Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with Apert syndrome. 9452027 1998
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome 		0.900 GeneticVariation UNIPROT In Apert syndrome, characterised by syndactyly of the hands and feet, recurrent mutations of a serine-proline dipeptide (either Ser252Trp or Pro253Arg) in the linker between the IgII and IgIII extracellular immunoglobulin-like domains, have been documented in more than 160 unrelated individuals. 9002682 1997
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome 		0.900 GeneticVariation UNIPROT Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. 7668257 1995
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome 		C 0.900 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
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome 		0.900 GeneticVariation UNIPROT 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
dbSNP: rs121918499
rs121918499
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		0.840 GeneticVariation UNIPROT A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases. 17803937 2007
dbSNP: rs121918499
rs121918499
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		0.840 GeneticVariation UNIPROT Intracellular retention, degradation, and signaling of glycosylation-deficient FGFR2 and craniosynostosis syndrome-associated FGFR2C278F. 16844695 2006
dbSNP: rs121918499
rs121918499
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		0.840 GeneticVariation UNIPROT Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 11781872 2002
dbSNP: rs121918499
rs121918499
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		0.840 GeneticVariation UNIPROT Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). 11173845 2000
dbSNP: rs121918499
rs121918499
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		0.840 GeneticVariation UNIPROT Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene. 10945669 2000
dbSNP: rs121918499
rs121918499
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		0.840 GeneticVariation UNIPROT Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. 10394936 1999
dbSNP: rs121918499
rs121918499
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		0.840 GeneticVariation UNIPROT Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene. 9693549 1998
dbSNP: rs121918499
rs121918499
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		0.840 GeneticVariation UNIPROT Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly. 9719378 1998
dbSNP: rs121918499
rs121918499
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		0.840 GeneticVariation UNIPROT Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. 9002682 1997
dbSNP: rs121918499
rs121918499
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		0.840 GeneticVariation UNIPROT Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome. 9150725 1997
dbSNP: rs121918499
rs121918499
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		0.840 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: rs121918499
rs121918499
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		0.840 GeneticVariation UNIPROT Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. 7719345 1995
dbSNP: rs121918499
rs121918499
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		0.840 GeneticVariation UNIPROT FGFR2 mutations in Pfeiffer syndrome. 7719333 1995
dbSNP: rs121918499
rs121918499
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		G 0.840 CausalMutation CLINVAR
dbSNP: rs121918499
rs121918499
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		A 0.840 CausalMutation CLINVAR
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