Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 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: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 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: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 GeneticVariation disease BEFREE Although FGFR2 mutations and polymorphisms have been reported in various ethnic groups, especially in the area of osteology, we report, for the first time, the identification of one new FGFR2 mutation in Chinese patients with Crouzon syndrome. 22355256 2012
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 CausalMutation disease CLINVAR Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects. 27028366 2016
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 GeneticVariation disease BEFREE We present the case of a child with exophthalmos in whom genetic analysis identified a mutation in the fibroblast growth factor receptor 2 associated with Crouzon syndrome. 20163525 2010
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 CausalMutation disease CLINVAR FGFR-associated craniosynostosis syndromes and gastrointestinal defects. 27481450 2016
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 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: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 CausalMutation disease CLINVAR Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand. 9700203 1998
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 GeneticVariation disease BEFREE Inherited FGFR2 mutation in a Chinese patient with Crouzon syndrome and luxation of bulbus oculi provoked by trauma: a case report. 31640617 2019
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 GeneticVariation disease UNIPROT A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly. 9152842 1997
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 GeneticVariation disease BEFREE Crouzon syndrome is usually caused by pathogenic variants in the fibroblast growth factor receptor 2 (FGFR2) gene. 31318164 2019
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 GeneticVariation disease BEFREE The FGFR2 missense mutation was detected in Crouzon syndrome but not in sporadic Chiari I with syringomyelia or lambdoid synostosis. 12186468 2002
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 GeneticVariation disease BEFREE A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome. 15523492 2005
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 CausalMutation disease CLINVAR Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. 7668257 1995
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 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: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 Biomarker disease GENOMICS_ENGLAND Crouzon syndrome, characterized by craniosynostosis but normal limbs, was previously shown to result from allelic mutations of the third Ig domain of FGFR2. 7719344 1995
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 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: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 GeneticVariation disease UNIPROT Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus. 8946174 1996
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 Biomarker disease GENOMICS_ENGLAND Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. 8696350 1996
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 GeneticVariation disease BEFREE Fibroblast growth factor receptor 2 (FGFR2) <sup>C342Y/+</sup> mutation is a known cause of Crouzon syndrome that is characterised by craniosynostosis and midfacial hypoplasia. 29223639 2018
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 GeneticVariation disease BEFREE Genotype-phenotype analyses based on our cohort and previous studies further indicate that in spite of some overlap, PS and CS are preferentially accounted for by two distinct sets of FGFR2 mutations. 16418739 2006
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 GeneticVariation disease CLINVAR Signaling by fibroblast growth factors (FGF) and fibroblast growth factor receptor 2 (FGFR2)-activating mutations blocks mineralization and induces apoptosis in osteoblasts. 10851026 2000
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 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: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 GeneticVariation disease UNIPROT Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. 8528214 1995
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 CausalMutation disease CLINVAR Mutations in the FGFR2 gene in Mexican patients with Apert syndrome. 25867380 2015