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: C0014474
Disease: Ependymoma
Ependymoma
0.010 AlteredExpression disease BEFREE Clinical association analysis of ependymomas and pilocytic astrocytomas reveals elevated FGFR3 and FGFR1 expression in aggressive ependymomas. 28468611 2018
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia
0.010 GeneticVariation disease BEFREE Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia. 28763161 2018
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.010 AlteredExpression disease BEFREE mTORC1 activation downregulates FGFR3 and PTH/PTHrP receptor in articular chondrocytes to initiate osteoarthritis. 28043938 2018
CUI: C0153349
Disease: Malignant neoplasm of tongue
Malignant neoplasm of tongue
0.010 GeneticVariation disease BEFREE Targeted sequencing of tonsillar and base of tongue cancer and human papillomavirus positive unknown primary of the head and neck reveals prognostic effects of mutated FGFR3. 28525363 2018
CUI: C0280856
Disease: Squamous cell carcinoma of vulva
Squamous cell carcinoma of vulva
0.010 Biomarker disease BEFREE Vulvar Squamous Cell Carcinoma (VSCC) as Two Diseases: HPV Status Identifies Distinct Mutational Profiles Including Oncogenic Fibroblast Growth Factor Receptor 3. 28377483 2018
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.010 AlteredExpression disease BEFREE Clinical association analysis of ependymomas and pilocytic astrocytomas reveals elevated FGFR3 and FGFR1 expression in aggressive ependymomas. 28468611 2018
Stage 0a Bladder Urothelial Carcinoma
0.010 GeneticVariation disease BEFREE In this case, the non-invasive papillary urothelial carcinoma in the vagina displayed the same genetic alterations in the FGFR3 and PIK3CA genes as those seen in the non-invasive papillary urothelial carcinoma of the bladder contrasting with the wild phenotype observed in the invasive urothelial carcinoma of the renal pelvis. 28589387 2018
Congenital duodenal obstruction due to malrotation of intestine
0.010 GeneticVariation disease BEFREE Identification of a novel missence mutation in FGFR3 gene in an Iranian family with LADD syndrome by Next-Generation Sequencing. 28483234 2017
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
0.010 GeneticVariation phenotype BEFREE The p.Lys650Thr pathogenic variant in FGFR3 has been linked to acanthosis nigricans without significant craniofacial or skeletal abnormalities. 28181399 2017
CUI: C0022572
Disease: keratoacanthoma
keratoacanthoma
0.010 GeneticVariation disease BEFREE In addition, within the BRAF inhibitor-associated group, the lesions designated as KAs and BRAF inhibitor-associated verrucous keratoses had a similar mutational profile (mutations in PIK3CA, APC, and HRAS), which was distinct to that seen in squamous cell carcinomas (FGFR3, CDKN2A, and STK11). 26319365 2016
CUI: C0023531
Disease: Leukoplakia
Leukoplakia
0.010 Biomarker disease BEFREE The present study was undertaken to analyze expression of FGF-2 and its receptors FGFR-2 and FGFR-3 in 72 PMOLs, 108 OSCC and 52 healthy controls, and their role in risk assessment for malignant transformation of Leukoplakia (LKP) and Oral submucous fibrosis (OSMF) to OSCC. 26465941 2016
CUI: C0029172
Disease: Oral Submucous Fibrosis
Oral Submucous Fibrosis
0.010 Biomarker disease BEFREE The present study was undertaken to analyze expression of FGF-2 and its receptors FGFR-2 and FGFR-3 in 72 PMOLs, 108 OSCC and 52 healthy controls, and their role in risk assessment for malignant transformation of Leukoplakia (LKP) and Oral submucous fibrosis (OSMF) to OSCC. 26465941 2016
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.010 Biomarker disease BEFREE Overexpression of miR-100 inhibits growth of osteosarcoma through FGFR3. 26018508 2016
CUI: C0037285
Disease: Skin Manifestations
Skin Manifestations
0.010 GeneticVariation group BEFREE We explored familial AN patients with FGFR3 mutations and examined the effectiveness of glycolic acid (GA) peeling in improving their skin manifestations. 26818779 2016
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease
0.010 AlteredExpression disease BEFREE miR-100 may activate MMP13 through 3'UTR-suppressoin of FGFR3 mRNA to facilitate development of LDD. 26279428 2016
Degeneration of lumbar intervertebral disc
0.010 AlteredExpression disease BEFREE The pathogenesis of lumbar disc degeneration (LDD) involved activation of matrix metalloproteinase 13 (MMP13) by differential expression of fibroblast growth factor receptor 1 (FGFR1) and FGFR3. 26279428 2016
Squamous cell carcinoma of oropharynx
0.010 AlteredExpression disease BEFREE Fibroblast growth factor receptor 3 protein is overexpressed in oral and oropharyngeal squamous cell carcinoma. 26711175 2016
CUI: C0334265
Disease: Transitional Cell Neoplasm
Transitional Cell Neoplasm
0.010 GeneticVariation disease BEFREE In the group of patients where a transitional cell tumor was confirmed at histopathological evaluation, urine DNA was positive for one or more markers in 29 out of 31 cases (94%), including 19 with FGFR3 mutation (61%). 26151138 2016
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease
0.010 AlteredExpression disease BEFREE miR-100 may activate MMP13 through 3'UTR-suppressoin of FGFR3 mRNA to facilitate development of LDD. 26279428 2016
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
0.010 Biomarker disease BEFREE Overexpression of miR-100 inhibits growth of osteosarcoma through FGFR3. 26018508 2016
CUI: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
Pancreatic Ductal Adenocarcinoma
0.010 AlteredExpression disease BEFREE Through a comprehensive screening, we identified fibroblast growth factor receptor 3 (FGFR3) and ANNEXIN A8 (ANXA8) as genes up-regulated by ZIC2 in PDAC cells. 26318045 2016
CUI: C0026552
Disease: Morphine Dependence
Morphine Dependence
0.010 Biomarker disease BEFREE Recent data have indicated that α3β4* neuronal nicotinic (n) ACh receptors may play a role in morphine dependence. 24750073 2015
CUI: C0032927
Disease: Precancerous Conditions
Precancerous Conditions
0.010 AlteredExpression group BEFREE The ability of mutant FGFR3 to drive transcriptional expression profiles involved in tumor cell adhesion suggests a mechanism for expansion of premalignant urothelial lesions. 25223521 2015
CUI: C0205851
Disease: Germ cell tumor
Germ cell tumor
0.010 Biomarker group BEFREE Presence of somatic mutations within PIK3CA, AKT, RAS, and FGFR3 but not BRAF in cisplatin-resistant germ cell tumors. 24812411 2015
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 2015