FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: Pfeiffer Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		G 0.820 CausalMutation CLINVAR The C342R mutation in FGFR2 causes Crouzon syndrome with elbow deformity. 25759925 2015
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		0.820 GeneticVariation BEFREE Substitution of Cys342 by Ser or other amino acids (Arg/Phe/Try/Tyr) has been previously reported in Crouzon and Pfeiffer syndrome. 26362256 2015
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		0.820 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: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		G 0.820 CausalMutation CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277 2013
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		0.820 GeneticVariation UNIPROT A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases. 17803937 2007
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		0.820 GeneticVariation UNIPROT Intracellular retention, degradation, and signaling of glycosylation-deficient FGFR2 and craniosynostosis syndrome-associated FGFR2C278F. 16844695 2006
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		G 0.820 CausalMutation CLINVAR Screening of patients with craniosynostosis: molecular strategy. 12884424 2003
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		0.820 GeneticVariation UNIPROT Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 11781872 2002
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		0.820 GeneticVariation UNIPROT Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). 11173845 2000
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		0.820 GeneticVariation UNIPROT Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene. 10945669 2000
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		0.820 GeneticVariation UNIPROT Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. 10394936 1999
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		0.820 GeneticVariation UNIPROT Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly. 9719378 1998
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		0.820 GeneticVariation UNIPROT Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene. 9693549 1998
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		0.820 GeneticVariation UNIPROT Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. 9002682 1997
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		0.820 GeneticVariation UNIPROT Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome. 9150725 1997
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		0.820 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: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		0.820 GeneticVariation UNIPROT FGFR2 mutations in Pfeiffer syndrome. 7719333 1995
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		0.820 GeneticVariation UNIPROT Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. 7719345 1995
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		G 0.820 CausalMutation CLINVAR Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. 7987400 1994
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		T 0.820 CausalMutation CLINVAR
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		C 0.820 CausalMutation CLINVAR