FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.200 Biomarker disease BEFREE Our results extended the mutational spectrum of FGFR3 and proved that applications of NGS and bioinformatics are effective methods for skeletal dysplasia diagnosis in clinical practices. 23726269 2013
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.200 GeneticVariation disease BEFREE The regions analysed encompassed all FGFR3 point mutations previously described in severe skeletal dysplasia and cancers. 11526491 2001
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.200 Biomarker disease BEFREE In this review, we describe the mechanisms of potential therapeutic targets and underlying regulators and then systematically review molecular therapeutic strategies for FGFR3 gene-related skeletal dysplasia based on current knowledge. 29063142 2017
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.200 GeneticVariation disease BEFREE Activating FGFR3 germline mutations cause skeletal dysplasia and craniosynostosis syndromes. 17172848 2006
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.200 GeneticVariation disease BEFREE We describe the first case of protein-losing enteropathy in a pediatric patient, with severe skeletal dysplasia consistent with thanatophoric dysplasia type I and DNA analysis that revealed a c.1949A>T (p.Lys650Met) in exon 15 of the FGFR3 gene. 27214123 2016
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.200 GeneticVariation disease BEFREE FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met. 25119967 2015
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.200 GeneticVariation disease BEFREE Activating mutations of the FGFR3 gene lead to craniosynostosis and multiple types of skeletal dysplasia with varying degrees of severity: thanatophoric dysplasia (TD), achondroplasia and hypochondroplasia. 19898608 2009
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.200 GeneticVariation disease BEFREE Other mutations within the FGFR3 tyrosine kinase domain (e.g., C1620A or C1620G [both resulting in Asn540Lys]) are known to cause hypochondroplasia, a relatively common but milder skeletal dysplasia. 11055896 2000
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.200 GeneticVariation disease BEFREE Our results extend the genetic mutation spectrum of FGFR3 and demonstrate that TES is an effective method for the diagnosis of skeletal dysplasia in clinical practices. 29080836 2018
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.200 GeneticVariation disease BEFREE In this communication, we report the identification of a mosaic R248C missense mutation in the IgII-III linker region of the gene encoding the fibroblast growth factor receptor-3 (FGFR3), in an individual who manifests a skeletal dysplasia and epidermal hyperplasia. 12833394 2003
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.200 GeneticVariation disease BEFREE Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience : prenatal diagnosis in FGFR3 gene. 19789973 2009
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.200 GeneticVariation disease BEFREE Knock-in human FGFR3 achondroplasia mutation as a mouse model for human skeletal dysplasia. 28230213 2017
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.200 GeneticVariation disease BEFREE Analysis of STAT1 activation by six FGFR3 mutants associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3 signaling in cartilage. 19088846 2008
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.200 GeneticVariation disease BEFREE A large proportion of these tumors (39%) harbored somatic activating FGFR3 mutations, identical to those associated with skeletal dysplasia syndromes and bladder and cervical neoplasms. 15772091 2005
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.200 GeneticVariation disease BEFREE We have identified a novel fibroblast growth factor receptor 3 (FGFR3) missense mutation in four unrelated individuals with skeletal dysplasia that approaches the severity observed in thanatophoric dysplasia type I (TD1). 10053006 1999
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.200 Biomarker disease BEFREE Here we present one familial and 16 sporadic cases with FGFR3 related skeletal dysplasia, and we evaluate biometric parameters and U/S findings consistent with the diagnosis of skeletal dysplasia. 21910223 2011
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.200 AlteredExpression disease BEFREE The pathology of small hypertrophic chondrocytes due to up-regulated FGFR3 signaling in FGFR3 skeletal dysplasia was recapitulated in growth plate cartilage formed in the xenografts of patient-specific hiPSC-derived cartilage. 30086379 2018
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.200 GeneticVariation disease BEFREE Activating mutations of FGFR3 also result in other forms of skeletal dysplasia and craniosynostosis. 22145492 2011
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.200 Biomarker disease BEFREE Thus, this study identifies a novel inhibitory peptide for FGFR3 signaling, which may serve as a potential therapeutic agent for the treatment of FGFR3-related skeletal dysplasia. 23014564 2012
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.200 GeneticVariation disease BEFREE Our case shows that FGFR3 mutation analysis should be considered in case of the coexistence of acanthosis nigricans and a skeletal dysplasia. 20453470 2010
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.200 Biomarker disease BEFREE To explore the feasibility and accuracy of a noninvasive prenatal test for fibroblast growth factor receptor 3 (FGFR3)-related skeletal dysplasia based on next-generation sequencing (NGS) of plasma cell-free DNA. 30048571 2018
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.200 CausalMutation disease CLINVAR
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.200 Biomarker disease HPO