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 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 GeneticVariation disease BEFREE Here we describe the first molecularly documented evidence of germline and somatic mosaicism for FGFR2 mutation, identified in the mother of a child with Crouzon syndrome caused by a heterozygous c.1007A>G (p.Asp336Gly) substitution. 20635358 2010
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 CausalMutation disease CLINVAR Dura in the pathogenesis of syndromic craniosynostosis: fibroblast growth factor receptor 2 mutations in dural cells promote osteogenic proliferation and differentiation of osteoblasts. 20489451 2010
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 CausalMutation disease CLINVAR Differential effects of FGFR2 mutation in ophthalmic findings in Apert syndrome. 17251833 2007
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 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
0.800 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 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 2006
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 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
0.800 Biomarker disease GENOMICS_ENGLAND Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
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 P253R fibroblast growth factor receptor-2 mutation induces RUNX2 transcript variants and calvarial osteoblast differentiation. 15389579 2005
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 Biomarker disease GENOMICS_ENGLAND Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. 16061565 2005
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 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
0.800 Biomarker 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 2004
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 The Crouzon syndrome, which is associated with fibroblast growth factor receptor (FGFR2) mutations, is characterized by premature fusion of cranial sutures. 12162872 2002
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 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
0.800 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
0.800 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
0.800 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 Positive controls containing FGFR2 mutations (Crouzon disease and Pfieffer syndrome) were confirmed by SSCP-PCR and sequencing. 11069376 2000
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 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
0.800 GeneticVariation disease UNIPROT Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). 11173845 2000
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 GeneticVariation disease BEFREE Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. 10712195 2000
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
0.800 GeneticVariation disease UNIPROT 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