FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: Craniofacial Dysostosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 Biomarker disease HPO
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE For example, we have identified 10 different mutations in the FGFR2 extracellular immunoglobulin III (IgIII) domain in 50% (16/32) of our Crouzon syndrome patients. 7493034 1995
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE We now report the finding of a mutation in exon IIIc of the FGFR2 gene in a kindred affected with Crouzon syndrome (C1043 to G; Ala344Gly) that is identical to the mutation previously associated with Jackson-Weiss syndrome. 7581378 1995
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE Constitutive activation of fibroblast growth factor receptor-2 by a point mutation associated with Crouzon syndrome. 7592798 1995
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE Given that a mutation in codon 342 was found in 8 out of 17 cases and that in 9 cases the mutation occurred at five additional positions, codon 342 of exon B of the FGFR2 gene may be predisposed to mutations in Crouzon syndrome. 7607643 1995
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 PosttranslationalModification disease BEFREE Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. 7655462 1995
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. 7719344 1995
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been identified in Crouzon syndrome, an autosomal dominant condition causing premature fusion of the cranial sutures (craniosynostosis). 7719345 1995
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE Interestingly, this T to C change is identical to a mutation in FGFR2 previously reported in Crouzon syndrome, a phenotypically similar disorder but one lacking the hand and foot anomalies seen in PS. 7795583 1995
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE The Crouzon syndrome locus (CFD1) maps to the region of chromosome 10q2, with the tightest linkage to locus D10S205 (Z = 3.09, theta = 0.00). the Jackson-Weiss syndrome locus in the large Amish pedigree in which the condition was originally described was also linked to the chromosome 10q23-q26 region between loci D10S190 and D10S186. 7806229 1994
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE Recently mutations in fibroblast growth factor receptor 2 (FGFR2) have been found in patients with another craniosynostotic syndrome, Crouzon syndrome. 7874170 1994
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE We now present evidence that mutations in the fibroblast growth factor receptor 2 gene (FGFR2) cause Crouzon syndrome. 7987400 1994
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 AlteredExpression disease BEFREE Thus the human developmental abnormality Crouzon syndrome arises from constitutive activation of FGFR2 due to aberrant intermolecular disulfide-bonding. 8755573 1996
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have previously been identified in Crouzon syndrome, an autosomal dominant condition involving premature fusion of the cranial sutures. 8880573 1996
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 Biomarker disease CTD_human A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly. 9152842 1997
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE Two of them showed a 1036T --> C mutation in the fibroblast growth factor receptor 2 (FGFR2) gene, that was earlier reported in PS and in Crouzon syndrome. 9475590 1998
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case. 9475591 1998
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE Five patients with Crouzon syndrome of variable severity had mutations in exon 7 of FGFR2. 10541159 1999
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE We have identified a novel missense mutation in the FGFR2 gene that predicts an Ala362Ser substitution shared by all family members affected by Crouzon syndrome and by a "clinically normal"-appearing father. 10574673 1999
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE We report on a radiographically examined fetus (gestational age 13 weeks) with Crouzon syndrome caused by a mutation in the gene encoding the fibroblast growth factor 2 (FGFR2). 10706360 2000
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. 10712195 2000
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE Positive controls containing FGFR2 mutations (Crouzon disease and Pfieffer syndrome) were confirmed by SSCP-PCR and sequencing. 11069376 2000
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE Using the published primers for PCR, a patient with Crouzon syndrome was found to be homozygous for a mutation that results in a Q289P amino acid substitution in FGFR2. 11484208 2001
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 Biomarker disease BEFREE In contrast, a broad range of mutations throughout the extracellular domain of FGFR2 causes the overlapping cranial phenotypes of Pfeiffer and Crouzon syndromes and related craniofacial dysostoses. 11596961 2001
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease LHGDN The Crouzon syndrome, which is associated with fibroblast growth factor receptor (FGFR2) mutations, is characterized by premature fusion of cranial sutures. 12162872 2002