Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 Biomarker disease BEFREE Given the assignment to the same chromosomeal band(s) as FGFR2 and the probable ligand-receptor relationship of the gene products of FGF8 and FGFR2, we hypothesize that some cases of these craniosynostoses linked to 10q25-q26 that do not have mutations in FGFR2 may involve mutations in FGF8. 8595889 1995
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
0.700 GeneticVariation disease BEFREE Pfeiffer syndrome is a classic form of craniosynostosis that is caused by a proline-->arginine substitution at amino acid 252 (Pro252Arg) in fibroblast growth factor receptor 1 (FGFR1). 10942429 2000
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.700 GeneticVariation disease BEFREE Pfeiffer syndrome (PS) is one of the classical craniosynostosis syndromes correlated with specific mutations in the human fibroblast growth factor receptor (FGFR) genes, FGFR1 and FGFR2. 10394936 1999
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.700 GeneticVariation disease BEFREE Several of the defects observed in the Fgfr2 (W290R) homozygous mouse mutant are attributable to a loss-of-function mechanism in contrast to the frequently reported gain-of-function receptor function associated with mutated FGF receptors in craniosynostosis. 22872266 2012
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
0.700 Biomarker disease CTD_human
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.700 Biomarker disease HPO
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.700 GeneticVariation disease BEFREE The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor. 9521581 1998
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
0.700 GeneticVariation disease BEFREE fibroblast growth factor receptor (FGFR) -related craniosynostosis syndromes are caused by many different mutations within FGFR-1, 2, 3, and certain FGFR mutations are associated with more than one clinical syndrome. 24578066 2014
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 Biomarker disease BEFREE Syndromic craniosynostoses (Saethre-Chotzen, Pfeiffer 1, 2, 3, Apert, Crouzon, mainly) are particular in this that a single gene defect (mostly fibroblast growth factor receptor [FGFR] 2) generates different clinical phenotypes that characterize these syndromes. 17882438 2007
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
0.700 GeneticVariation disease BEFREE All except one of these cases carried no mutations in the FGFR1-3 domains indicated as hot spots for craniosynostosis-associated mutations. 10447608 1999
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.700 GeneticVariation disease BEFREE We propose that this particular FGFR2 mutation only confers a predisposition to craniosynostosis and that an additional environmental insult (in this case foetal head constraint associated with breech position) is necessary for craniosynostosis to occur. 10951518 2000
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.700 Biomarker disease CTD_human Syndromic craniosynostosis with elbow joint contracture. 16465081 2006
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.700 GeneticVariation disease BEFREE Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation. 16158432 2005
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 No FGFR2 gene mutation was detected in any of the patients with Saethre-Chotzen syndrome and nonsyndromic craniosynostosis. 24656465 2014
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.700 GeneticVariation disease BEFREE Novel SNP at the common primer site of exon IIIa of FGFR2 gene causes error in molecular diagnosis of craniosynostosis syndrome. 11484208 2001
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
0.700 GeneticVariation disease BEFREE We establish here that loss-of-function mutations in FGFR1 underlie KAL2 whereas a gain-of-function mutation in FGFR1 has been shown to cause a form of craniosynostosis. 12627230 2003
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.700 GeneticVariation disease BEFREE Identical proline-->arginine gain-of-function mutations in fibroblast growth factor receptor (FGFR) 1 (Pro252Arg), FGFR2 (Pro253Arg) and FGFR3 (Pro250Arg), result in type I Pfeiffer, Apert and Muenke craniosynostosis syndromes, respectively. 14613973 2004
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.700 GeneticVariation disease BEFREE Fgfr2+/Y394C mice exhibited epidermal hyperplasia and premature closure of cranial sutures (craniosynostosis) due to abnormal cell proliferation and differentiation. 22585574 2012
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.700 GeneticVariation disease BEFREE Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion. 16955501 2006
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.700 GeneticVariation disease BEFREE The data implies that second-site mutations in FGFR2 itself (outside of exon IIIc) or in other genes may determine specific aspects of the phenotypes of craniosynostosis syndromes. 7581378 1995
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