FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 558; N. variants: 42
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 Molecular therapeutic strategies for FGFR3 gene-related skeletal dysplasia. 29063142 2018
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.200 CausalMutation disease CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.200 Biomarker disease BEFREE Our findings reveal that FGFR3 promotes the degradation of BMPR1a, which plays an important role in the pathogenesis of FGFR3-related skeletal dysplasia. 24657641 2014
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 2014
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 2013
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 2010
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 2009
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.200 GeneticVariation disease BEFREE Hypochondroplasia (HCH) is a skeletal dysplasia inherited in an autosomal dominant manner due, in most cases, to mutations in the fibroblast growth factor receptor 3 (FGFR3). 18583390 2008
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.200 GeneticVariation disease BEFREE Activating FGFR3 germline mutations cause skeletal dysplasia and craniosynostosis syndromes. 17172848 2007
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 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 GeneticVariation disease BEFREE Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype. 11055896 2001
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.200 GeneticVariation disease BEFREE A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. 10053006 1999