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: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell 		0.400 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 • 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: C0027651
Disease: Neoplasms
Neoplasms 		0.200 AlteredExpression group BEFREE β-Catenin, PPAR-γ, and FGFR3 pathways were activated in non-T-cell-inflamed tumors. 27197067 2016
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 GeneticVariation disease LHGDN [Typical features of craniofacial growth of the FGFR3-associated coronal synostosis syndrome (so-called Muenke craniosynostosis)]. 12764678 2003
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 Biomarker disease LHGDN [Clinical and molecular genetic observations on families with cherubism over three generations]. 12664252 2003
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 GeneticVariation disease BEFREE Within the past year, the achondroplasia locus has been mapped to 4p 16.3 (refs 5-7) and mutations in the fibroblast growth factor receptor 3 (FGFR3) gene have been identified in patients with the disorder. 7670477 1995
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.800 Biomarker disease CTD_human Whole-genome and whole-exome sequencing of bladder cancer identifies frequent alterations in genes involved in sister chromatid cohesion and segregation. 24121792 2013
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.600 Biomarker disease CTD_human Whole-genome and whole-exome sequencing of bladder cancer identifies frequent alterations in genes involved in sister chromatid cohesion and segregation. 24121792 2013
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell 		0.400 Biomarker disease CTD_human Whole-genome and whole-exome sequencing of bladder cancer identifies frequent alterations in genes involved in sister chromatid cohesion and segregation. 24121792 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.050 AlteredExpression disease BEFREE Whilst upregulation of this oncogene occurs most frequently in low-grade non-invasive tumors, recent data reveal increased FGFR3 expression characterizes a common sub-type of invasive UCC sharing molecular similarities with breast cancer. 25071007 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.040 AlteredExpression disease BEFREE Whilst upregulation of this oncogene occurs most frequently in low-grade non-invasive tumors, recent data reveal increased FGFR3 expression characterizes a common sub-type of invasive UCC sharing molecular similarities with breast cancer. 25071007 2014
CUI: C0220620
Disease: Gastrointestinal Carcinoid Tumor
Gastrointestinal Carcinoid Tumor 		0.010 GeneticVariation disease BEFREE Whereas FGFR3 mutations occurred with equal frequency in both sensitive and resistant GCTs, mutations in AKT1 and PIK3CA were observed exclusively in cisplatin-resistant tumors. 24812411 2014
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.800 GeneticVariation disease BEFREE When we examined detailed data on a prevalent occupational exposure associated with increased bladder cancer risk, straight metalworking fluids, we also observed statistically significant additive interaction for rs798766 (TMEM129-TACC3-FGFR3, P interaction = .02), with the interaction more apparent in patients with tumors positive for FGFR3 expression.All statistical tests were two-sided. 26374428 2015
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.600 GeneticVariation disease BEFREE When we examined detailed data on a prevalent occupational exposure associated with increased bladder cancer risk, straight metalworking fluids, we also observed statistically significant additive interaction for rs798766 (TMEM129-TACC3-FGFR3, P interaction = .02), with the interaction more apparent in patients with tumors positive for FGFR3 expression.All statistical tests were two-sided. 26374428 2015
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.500 GeneticVariation disease BEFREE When we examined detailed data on a prevalent occupational exposure associated with increased bladder cancer risk, straight metalworking fluids, we also observed statistically significant additive interaction for rs798766 (TMEM129-TACC3-FGFR3, P interaction = .02), with the interaction more apparent in patients with tumors positive for FGFR3 expression.All statistical tests were two-sided. 26374428 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.200 GeneticVariation group BEFREE When the results of the FGFR3 thanatophoric dysplasia mutations located in exon 7, A248C and S249C and in exon 10, G372C and T375C, were analyzed one by one or as a group, despite the findings of previous research reports, our data suggest that these mutations are detected homogenously regardless of the tumor classification and tumor grade. 21264819 2011
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.800 GeneticVariation disease BEFREE When the results of the FGFR3 thanatophoric dysplasia mutations located in exon 7, A248C and S249C and in exon 10, G372C and T375C, were analyzed one by one or as a group, despite the findings of previous research reports, our data suggest that these mutations are detected homogenously regardless of the tumor classification and tumor grade. 21264819 2011
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		0.600 GeneticVariation disease BEFREE When the results of the FGFR3 thanatophoric dysplasia mutations located in exon 7, A248C and S249C and in exon 10, G372C and T375C, were analyzed one by one or as a group, despite the findings of previous research reports, our data suggest that these mutations are detected homogenously regardless of the tumor classification and tumor grade. 21264819 2011
CUI: C0041207
Disease: Truncus Arteriosus, Persistent
Truncus Arteriosus, Persistent 		0.050 GeneticVariation disease BEFREE When the 2 genotypes were combined, we observed that 58% of pTa tumors had the (mutant FGFR3, WT TP53) genotype, whereas 58% of invasive lesions harbored the inverse genotype (WT FGFR3, mutant TP53). 17085196 2006
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 Biomarker disease BEFREE When grouped according to the "International Skeletal Dysplasia Society 2010 classification" the most frequent group is "FGFR3 group" (achondroplasia). 25931420 2015
CUI: C0079772
Disease: T-Cell Lymphoma
T-Cell Lymphoma 		0.020 Biomarker disease BEFREE Weak-to-moderate cytoplasmic FGFR3 staining was seen in 6/43 (12%) B-cell non-Hodgkin lymphomas and 2/17 (12%) T-cell lymphomas, with staining observed at low incidence in many histologic types. 18528286 2008
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		0.010 Biomarker disease BEFREE Weak-to-moderate cytoplasmic FGFR3 staining was seen in 6/43 (12%) B-cell non-Hodgkin lymphomas and 2/17 (12%) T-cell lymphomas, with staining observed at low incidence in many histologic types. 18528286 2008
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.200 GeneticVariation group BEFREE We used denaturing high-performance liquid chromatography and sequencing to screen for FGFR3 and TP53 mutations in 81 newly diagnosed urothelial cell carcinomas. 14678961 2003
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		0.500 GeneticVariation disease BEFREE We therefore screened a series of 62 cases of seborrheic keratosis for FGFR3 mutations. 15772091 2005
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		0.500 GeneticVariation disease UNIPROT We therefore screened a series of 62 cases of seborrheic keratosis for FGFR3 mutations. 15772091 2005