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
0.700 GeneticVariation disease BEFREE Atypical Crouzon syndrome with a novel Cys62Arg mutation in FGFR2 presenting with sagittal synostosis. 22117175 2015
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.700 GeneticVariation disease BEFREE We measured the foramen magnum area (FMA) and its sagittal and transversal components: the right, left, and mean area of the jugular foramen; the posterior fossa volume; and the cerebellar volume on preoperative millimetric computed tomography scan slices in 31 children with an FGFR2 mutation (14 with Crouzon syndrome, 11 with Apert syndrome, and 6 with Pfeiffer syndrome). 25886248 2015
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.700 GeneticVariation disease BEFREE Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome. 25174698 2014
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.700 GeneticVariation disease BEFREE A novel FGFR2 mutation in tyrosine kinase II domain, L617F, in Crouzon syndrome. 23913723 2014
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.700 GeneticVariation disease BEFREE The Fgfr2 W290R mouse model of Crouzon syndrome. 22872266 2013
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.700 GeneticVariation disease BEFREE FGFR2 molecular analysis and related clinical findings in one Chinese family with Crouzon syndrome. 22355256 2012
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.700 GeneticVariation disease BEFREE Ala344Pro mutation in the FGFR2 gene and related clinical findings in one Chinese family with Crouzon syndrome. 22665975 2012
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.700 GeneticVariation disease BEFREE Bilateral exophthalmos: Report of a case and review of a fibroblast growth factor receptor 2 mutation associated with non-penetrant Crouzon syndrome. 20163525 2011
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.700 GeneticVariation disease BEFREE Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes. 20635358 2010
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.700 GeneticVariation disease UNIPROT A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases. 17803937 2007
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.700 GeneticVariation disease BEFREE Skulls of Fgfr2(C342Y/+) mice differ from normal littermates in a comparable manner with differences between the skulls of humans with Crouzon syndrome and those of unaffected individuals. 17105336 2007
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.700 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
0.700 GeneticVariation disease BEFREE According to our results, sequencing analysis of IgIII domain of the FGFR2 gene can lead to a genetic diagnosis of Crouzon syndrome. 16470531 2006
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.700 GeneticVariation disease BEFREE Gain-of-function missense mutations in FGF receptor 2 (FGFR2) are responsible for a variety of craniosynostosis syndromes including Apert syndrome (AS), Pfeiffer syndrome (PS) and Crouzon syndrome (CS). 15282208 2005
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.700 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
0.700 GeneticVariation disease BEFREE This is the first report of an in-frame insertion in exon 8 of FGFR2 in a child with Crouzon's syndrome, tracheal anomalies, and a tail. 15602758 2005
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.700 GeneticVariation disease BEFREE The Crouzon syndrome, which is associated with fibroblast growth factor receptor (FGFR2) mutations, is characterized by premature fusion of cranial sutures. 12162872 2003
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.700 GeneticVariation disease BEFREE A novel fibroblast growth factor receptor 2 mutation in Crouzon syndrome associated with Chiari type I malformation and syringomyelia. 12186468 2002
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.700 GeneticVariation disease UNIPROT Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 11781872 2002
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
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: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.700 GeneticVariation disease UNIPROT Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). 11173845 2001
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.700 GeneticVariation disease UNIPROT In the present study, nine unrelated Crouzon syndrome patients were screened for mutations in the two exons of FGFR2 by polymerase chain reaction and direct sequencing. 11380921 2001
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
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: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.700 GeneticVariation disease BEFREE A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance. 10574673 2000
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.700 GeneticVariation disease UNIPROT A novel missense mutation--a G to T transversion--involving the first base of codon 362 was identified in all Crouzon syndrome-affected family members and in one "clinically normal"-appearing parent following DNA sequencing of exon B of the FGFR2 gene and specific BstNI restriction fragment length polymorphism. 10574673 2000