Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.700 Biomarker disease BEFREE In FGFR2 craniosynostosis, midfacial hypoplasia features oculo-orbital disproportion and symptomatic exorbitism. 30589795 2019
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.700 GeneticVariation disease BEFREE Crouzon syndrome (CS), which results from fibroblast growth factor receptor 2 mutations, is associated with craniosynostosis, exophthalmos, and other symptoms. 31640617 2019
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.700 Biomarker disease BEFREE The most common craniosynostosis syndromes include Apert (FGFR2), Crouzon (FGFR2), Muenke (FGFR3), Pfeiffer (FGFR1 and FGFR2), and Saethre-Chotzen (TWIST). 30851747 2019
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.700 Biomarker disease BEFREE Mandibular dysmorphology due to abnormal embryonic osteogenesis in FGFR2-related craniosynostosis mice. 31064775 2019
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.700 GeneticVariation disease BEFREE Midface and upper airway dysgenesis in FGFR2-related craniosynostosis involves multiple tissue-specific and cell cycle effects. 30228104 2018
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.700 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
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.700 GeneticVariation disease BEFREE FGFR2 encodes a fibroblast growth factor receptor whose mutations are responsible for the Crouzon syndrome, involving craniosynostosis and facial dysostosis with shallow orbits. 29848297 2018
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
0.700 GeneticVariation disease BEFREE A 20-gene panel was designed based on the genes' association with craniosynostosis, and clinically validated through retrospective testing of an Australian and New Zealand cohort of 233 individuals with craniosynostosis in whom previous testing had not identified a causative variant within FGFR1-3 hot-spot regions or the TWIST1 gene. 29215649 2018
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.700 GeneticVariation disease BEFREE <b>Background:</b> Apert syndrome is considered as one of the most common craniosynostosis syndromes with a prevalence of 1 in 65,000 individuals, and has a close relationship with point mutations in FGFR2 gene. 29868125 2018
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
0.700 Biomarker disease BEFREE The genes related to the pathogenesis of the craniosynostoses itself are those encoding transcription factors, e.g., TWIST1, MSX2, EN1, and ZIC1, and proteins involved in osteogenic proliferation, differentiation, and homeostasis, such as FGFR1, FGFR2, RUNX2, POR, and many others. 29392564 2018
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.700 Biomarker disease BEFREE The genes related to the pathogenesis of the craniosynostoses itself are those encoding transcription factors, e.g., TWIST1, MSX2, EN1, and ZIC1, and proteins involved in osteogenic proliferation, differentiation, and homeostasis, such as FGFR1, FGFR2, RUNX2, POR, and many others. 29392564 2018
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
0.700 GeneticVariation disease BEFREE Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses. 27683237 2017
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.700 Biomarker disease BEFREE Herein, the authors provide a comprehensive update on <i>FGFR2-</i>related syndromic craniosynostosis. 29230096 2017
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.700 GeneticVariation disease BEFREE Crouzon-Pfeiffer syndrome is caused by mutations predominantly in the FGFR2 gene leading to syndromic craniosynostosis and midfacial hypoplasia. 28121883 2017
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
0.700 GeneticVariation disease BEFREE Mutations in FGFR1 genes affect skull development, specifically suture and synchondrosis, resulting in craniosynostosis and facial abnormalities. 28129408 2017
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.700 GeneticVariation disease BEFREE Although FGFR2 gene mutations and polymorphisms have been studied in various ethnic groups, we report a mutation of FGFR2 in two different Chinese patients with two different types of syndromic craniosynostosis. 28849010 2017
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.700 GeneticVariation disease BEFREE These findings, together with previous data, imply that the same FGFR2 mutations can be associated with a wide range of phenotypes including clinically different forms of syndromic craniosynostosis and apparently normal phenotype, depending on other (epi)genetic and environmental factors. 27683237 2017
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
0.700 GeneticVariation disease BEFREE FGFR1 mutations have also been identified in more severe craniosynostosis syndromes, and a subset of craniosynostosis syndromes-associated FGFR1 mutations show dominant negative effect. 28411082 2017
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.700 GeneticVariation disease BEFREE Here we examine integration of brain and skull in two mouse models for craniosynostosis: one carrying the FGFR2c C342Y mutation associated with Pfeiffer and Crouzon syndromes and a mouse model carrying the FGFR2 S252W mutation, one of two mutations responsible for two-thirds of Apert syndrome cases. 28790902 2017
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.700 GeneticVariation disease BEFREE Mutations in Fibroblast Growth Factor Receptor-2 comprise the majority of known mutations in syndromic forms of craniosynostosis. 27481450 2016
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.700 GeneticVariation disease BEFREE Apert and Crouzon are the most common craniosynostosis syndromes associated with mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. 27028366 2016
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.700 GeneticVariation disease BEFREE In addition, we describe findings from a sequence analysis of all coding exons and exon/intron boundaries of FGFR2 performed on 124 patients with syndromic craniosynostosis. 25425289 2015
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.700 GeneticVariation disease BEFREE Heterozygous mutations in the human FGFR2 gene cause various craniosynostosis syndromes including Crouzon and Pfeiffer, but testicular defects were not reported. 26362256 2015
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.700 GeneticVariation disease BEFREE Of note, tracheal cartilaginous sleeves have been reported in other FGFR2-related craniosynostosis syndromes, and are associated with 90% risk of death by two years of age without tracheostomy. 25706251 2015
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.700 Biomarker disease BEFREE Since our patient shows typical radiological findings of Pfeiffer syndrome in hands and feet but at the same time lacks several characteristic features such as clinical signs of craniosynostosis and prominent eyes we suggest introducing the term "FGFR2 associated phenotypes" for similar cases. 26096994 2015