Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.760 Biomarker disease GENOMICS_ENGLAND Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development. 28425981 2017
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.760 GeneticVariation disease BEFREE Notably, we found a novel FGFR2 p.Asn549Thr mutation in a patient with CS, and a novel FGFR2 p.Ser347Cys mutation in a patient with JWS (thus, this patient was turned out to have an FGFR2-related PS-variant). 27683237 2017
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.760 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.760 CausalMutation disease CLINVAR Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects. 27028366 2016
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.760 CausalMutation disease CLINVAR Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. 25271085 2015
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.760 CausalMutation disease CLINVAR Identification of causative mutation in a Korean family with Crouzon syndrome using whole exome sequencing. 25361936 2014
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.760 CausalMutation disease CLINVAR FGFR1 and FGFR2 mutations in Pfeiffer syndrome. 23348274 2013
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.760 CausalMutation disease CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277 2013
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.760 Biomarker disease GENOMICS_ENGLAND Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. 22387015 2012
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.760 CausalMutation disease CLINVAR Receptor tyrosine kinases activate canonical WNT/β-catenin signaling via MAP kinase/LRP6 pathway and direct β-catenin phosphorylation. 22558232 2012
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.760 GermlineCausalMutation disease ORPHANET Nosology and classification of genetic skeletal disorders: 2010 revision. 21438135 2011
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.760 CausalMutation disease CLINVAR Analysis of a gain-of-function FGFR2 Crouzon mutation provides evidence of loss of function activity in the etiology of cleft palate. 20133659 2010
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.760 CausalMutation disease CLINVAR Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis. 17693524 2007
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.760 CausalMutation disease CLINVAR Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome. 16418739 2006
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.760 CausalMutation disease CLINVAR A gain-of-function mutation of Fgfr2c demonstrates the roles of this receptor variant in osteogenesis. 15316116 2004
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.760 CausalMutation disease CLINVAR Screening of patients with craniosynostosis: molecular strategy. 12884424 2003
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.760 CausalMutation disease CLINVAR Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 11781872 2002
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.760 GeneticVariation disease BEFREE Six different mutations in the fibroblast growth factor receptor 2 have been identified in patients with the clinical diagnosis of JWS.Jabs et al. 11343323 2001
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.760 CausalMutation disease CLINVAR Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). 11173845 2000
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.760 CausalMutation disease CLINVAR Mutation of FGFR2 (cys278phe) in craniolacunia and pansynostosis. 10874645 1999
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.760 GeneticVariation disease UNIPROT Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. 9677057 1998
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.760 GeneticVariation disease UNIPROT We report two novel FGFR2 missense mutations associated with phenotypes consistent with Jackson-Weiss syndrome. 9385368 1997
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.760 GeneticVariation disease BEFREE We report two novel FGFR2 missense mutations associated with phenotypes consistent with Jackson-Weiss syndrome. 9385368 1997
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.760 CausalMutation disease CLINVAR Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras. 8755573 1996
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.760 GeneticVariation disease UNIPROT FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. 8644708 1996