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: C0043352
Disease: Xerostomia
Xerostomia
0.100 Biomarker disease HPO
CUI: C1956097
Disease: Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn Syndrome
0.030 GeneticVariation disease BEFREE In this study, we have utilized fluorescence in situ hybridization to further characterize a WHS patient previously demonstrated to have an interstitial deletion and demonstrate that the distal breakpoint occurs between the loci FGFR3 and D4S168. 9215768 1997
CUI: C1956097
Disease: Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn Syndrome
0.030 Biomarker disease BEFREE The t(4;14) translocation occurs frequently in multiple myeloma (MM) and results in the simultaneous dysregulated expression of 2 potential oncogenes, FGFR3 (fibroblast growth factor receptor 3) from der(14) and multiple myeloma SET domain protein/Wolf-Hirschhorn syndrome candidate gene 1 from der(4). 11157491 2001
CUI: C1956097
Disease: Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn Syndrome
0.030 Biomarker disease BEFREE The WHS critical region (WHSCR) lies between the Huntington's disease gene, HD, and FGFR3. 11152656 2001
CUI: C1861213
Disease: Wide-cupped costochondral junctions
Wide-cupped costochondral junctions
0.100 Biomarker phenotype HPO
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel
0.100 Biomarker phenotype HPO
CUI: C0024419
Disease: Waldenstrom Macroglobulinemia
Waldenstrom Macroglobulinemia
0.010 Biomarker disease BEFREE In this study, we tested FGFR3 as a therapeutic target in WM and tested the effect of dovitinib on cell proliferation and apoptosis of WM cells in the context of BM microenvironment. 21521775 2011
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
0.100 Biomarker phenotype HPO
CUI: C3887875
Disease: Visual field defects
Visual field defects
0.100 Biomarker group HPO
CUI: C0042769
Disease: Virus Diseases
Virus Diseases
0.010 Biomarker group BEFREE In contrast, zero of six rabbits inoculated with 729.ACH.p13 cells failed to establish viral infection, whereas six of six rabbits inoculated with wild-type HTLV-1-expressing cells (729.ACH) were infected as measured by antibody responses, proviral load, and HTLV-1 p19 matrix antigen production from ex vivo-cultured PBMC. 16537614 2006
CUI: C0362030
Disease: Verrucous epidermal nevus
Verrucous epidermal nevus
0.020 GeneticVariation disease BEFREE Analysis of mutations in the PIK3CA and FGFR3 genes in verrucous epidermal nevus. 24346875 2014
CUI: C0362030
Disease: Verrucous epidermal nevus
Verrucous epidermal nevus
0.020 GeneticVariation disease BEFREE Fibroblast growth factor receptor 3 (FGFR3) mutation in a verrucous epidermal naevus associated with mild facial dysmorphism. 17441958 2007
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
0.010 GeneticVariation group BEFREE There were significant differences in ACH and AEH between the groups (control vs VSD with ACP vs VSD with ACP and AR, median ACH [%], 35.1 vs 32.0 vs 22.1; median AEH [%], 52.0 vs 48.0 vs 34.4, respectively; P < 0.01]). 28108755 2017
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm
0.510 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: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm
0.510 Biomarker disease CTD_human
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm
0.510 CausalMutation disease CGI
CUI: C2145472
Disease: Urothelial Carcinoma
Urothelial Carcinoma
0.100 Biomarker disease BEFREE We argue that routine use of molecular genomic tumour analysis in UC may inform selection of patients for appropriate trials and we further investigate the potential of FGFR3 as a meaningful clinical target for this difficult disease. 27271022 2016
CUI: C2145472
Disease: Urothelial Carcinoma
Urothelial Carcinoma
0.100 GeneticVariation disease BEFREE No mutations of FGFR3 in normal urothelium in the vicinity of urothelial carcinoma of the bladder harbouring activating FGFR3 mutations in patients with bladder cancer. 19621447 2009
CUI: C2145472
Disease: Urothelial Carcinoma
Urothelial Carcinoma
0.100 GeneticVariation disease BEFREE Mutations in FGFR3 are known to be associated with urothelial carcinoma and have a positive predictive value of 95% when detected in patients with no history of TCC. 22873290 2012
CUI: C2145472
Disease: Urothelial Carcinoma
Urothelial Carcinoma
0.100 Biomarker disease BEFREE The frequency of FGFR3 aberrations was higher in bladder UC (25%) than in UC of the renal pelvis and ureter (18%) but the difference was not statistically significant (P = 0.444). 30064409 2018
CUI: C2145472
Disease: Urothelial Carcinoma
Urothelial Carcinoma
0.100 GeneticVariation disease BEFREE In this review, we discuss the biologic and prognostic impact of FGFR3 mutations in UC as well as FGFR3 as a potential target for novel therapeutics. 22285006 2013
CUI: C2145472
Disease: Urothelial Carcinoma
Urothelial Carcinoma
0.100 Biomarker disease BEFREE Absent clinical activity suggests that patient selection by pFGFR3 IHC alone does not enrich for response to FGFR3 kinase inhibitors in urothelial carcinoma.<i></i>. 27932416 2017
CUI: C2145472
Disease: Urothelial Carcinoma
Urothelial Carcinoma
0.100 Biomarker disease BEFREE FGFR3 immunohistochemistry staining is present in one third of primary muscle-invasive UCs and half of metastases, while FGFR3 mutations and copy number changes are relatively uncommon. 24846059 2014
CUI: C2145472
Disease: Urothelial Carcinoma
Urothelial Carcinoma
0.100 GeneticVariation disease BEFREE • Paraffin-embedded transurethral resection tissue from 113 patients with UC was investigated for the association of p85aPI3K, p-AKT, p-mTOR, p-p70S6K and p-4E-BP1 (eukaryotic initiation factor 4E-binding protein 1) expression status, as well as PIK3CA and AKT1 mutations with p-extracellular signal-regulated kinase 1/2 (ERK1/2), fibroblast growth factor receptor 3 (FGFR3), pathological features, recurrence and cancer-specific survival. 23107319 2012
CUI: C2145472
Disease: Urothelial Carcinoma
Urothelial Carcinoma
0.100 GeneticVariation disease BEFREE Somatic FGFR3 mutations have been reported in various cancers such as urothelial carcinoma. 17568799 2007