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: C0007107
Disease: Malignant neoplasm of larynx
Malignant neoplasm of larynx
0.010 Biomarker disease BEFREE Here, we aimed to investigate the effects of expression of the FGFR family members FGFR1 and FGFR3, as well as their downstream PI3K/AKT signal-regulated kinases, on the aggressiveness and prognosis of laryngeal cancer. 29299828 2018
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities
0.010 GeneticVariation group BEFREE Receptor tyrosine kinase FGFR3 is involved in many signaling networks and is frequently mutated in developmental disorders and cancer. 29478821 2018
CUI: C0011570
Disease: Mental Depression
Mental Depression
0.010 Biomarker disease BEFREE Increased cholinergic signalling in hippocampus also increases behaviours related to anxiety and depression in mice, which can be reversed by ACh receptor antagonists. 28264149 2018
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
0.010 Biomarker disease BEFREE Increased cholinergic signalling in hippocampus also increases behaviours related to anxiety and depression in mice, which can be reversed by ACh receptor antagonists. 28264149 2018
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.010 AlteredExpression group BEFREE We describe FGFR3 overexpression in 15% of CRC patients with oligometastatic liver disease as a prognosticator for poor outcome. 30181810 2018
CUI: C0026857
Disease: Musculoskeletal Diseases
Musculoskeletal Diseases
0.010 GeneticVariation group BEFREE These orthopedic disorders are known to have genetic changes in FGFR3. 29068064 2018
CUI: C0028880
Disease: Odontogenic Tumors
Odontogenic Tumors
0.010 Biomarker group BEFREE Crouzon syndrome with acanthosis nigricans (CAN) is caused by a mutation in the fibroblast growth factor receptor ( FGFR) 3 gene that presents clinically as Crouzonoid craniofacial features in association with other anomalies such as acanthosis nigricans and benign odontogenic tumors. 29351036 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.010 Biomarker disease BEFREE Positive allosteric modulators (PAMs) that target the M<sub>1</sub> muscarinic acetylcholine (ACh) receptor (M<sub>1</sub> mAChR) are potential treatments for cognitive deficits in conditions such as Alzheimer disease and schizophrenia. 29691279 2018
CUI: C0152091
Disease: Osteochondropathy
Osteochondropathy
0.010 AlteredExpression group BEFREE The aim of this study was to investigate FGF8 and FGFR3 expression in clinical samples of Kashin-Beck disease (KBD), an endemic osteochondropathy found in China, as well as in pre-clinical models of this disease. 29626475 2018
CUI: C0206734
Disease: Hemangioblastoma
Hemangioblastoma
0.010 AlteredExpression disease BEFREE Interestingly, VHL-related HBs displayed increased fibroblast growth factor receptor 3 (FGFR3) protein expression when compared to VHL-related ccRCCs. 29805741 2018
CUI: C0280324
Disease: Laryngeal Squamous Cell Carcinoma
Laryngeal Squamous Cell Carcinoma
0.010 GeneticVariation disease BEFREE Mutations in PIK3CA and FGFR3 were detected in PD and LSCC cases, as well as other HNSCC cases, but absent in NPD cases. 29700339 2018
CUI: C0344315
Disease: Depressed mood
Depressed mood
0.010 Biomarker phenotype BEFREE Increased cholinergic signalling in hippocampus also increases behaviours related to anxiety and depression in mice, which can be reversed by ACh receptor antagonists. 28264149 2018
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx
0.010 Biomarker disease BEFREE Here, we aimed to investigate the effects of expression of the FGFR family members FGFR1 and FGFR3, as well as their downstream PI3K/AKT signal-regulated kinases, on the aggressiveness and prognosis of laryngeal cancer. 29299828 2018
CUI: C0751783
Disease: Lafora Disease
Lafora Disease
0.010 PosttranslationalModification disease BEFREE Further examination using neuron-specific methylome analysis revealed that the gene body of FGFR3 was hypermethylated in LBD, suggesting its increased transcription. 29909202 2018
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.010 AlteredExpression disease BEFREE Methylation changes and aberrant expression of FGFR3 in Lewy body disease neurons. 29909202 2018
Papillary transitional cell neoplasm of low malignant potential
0.010 GeneticVariation disease BEFREE FGFR3 mutations were observed more frequently in PUNLMP and low-grade NIPUC than in inverted papillomas (P = 0.009), whereas the opposite trend was noted for HRAS mutations (P < 0.001). 29193225 2018
CUI: C2014414
Disease: orthopedic disorders
orthopedic disorders
0.010 GeneticVariation group BEFREE These orthopedic disorders are known to have genetic changes in FGFR3. 29068064 2018
CUI: C2745963
Disease: Kashin-Beck Disease
Kashin-Beck Disease
0.010 Biomarker disease BEFREE FGF8 and FGFR3 may therefore play an important role in the onset of deep zone necrosis and pathogenesis in KBD in adolescent children. 29626475 2018
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
0.010 Biomarker disease BEFREE Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies. 29360984 2018
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency
0.010 GeneticVariation disease 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: C0004114
Disease: Astrocytoma
Astrocytoma
0.010 Biomarker disease BEFREE Moderate to strong FGFR3 staining was detected in gliomas of all grades, was more common in females, and was associated with poor survival in diffuse astrocytomas. 28379477 2017
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy
0.010 Biomarker disease BEFREE Higher percentages of stromal cells in FECD versus normal stained for αSMA (OR = 864.26, P < 0.001), brain-derived neurotrophic factor (BDNF, OR = 6.34, P = 0.005), fibroblast growth factor 7 (FGF-7, OR = 2.76, P = 0.011), FGF-9 (OR = 5.97, P < 0.001), receptor FGFR-3 (OR = 13.90, P = < 0.001), and serum amyloid A1 (OR = 3.45, P = 0.023). 28481834 2017
CUI: C0018681
Disease: Headache
Headache
0.010 Biomarker phenotype BEFREE Parasympathetic innervation of meninges and ability of carbachol, acetylcholine (ACh) receptor (AChR) agonist, to induce headaches suggests contribution of cholinergic mechanisms to primary headaches. 28496430 2017
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: C0020630
Disease: Hypophosphatasia
Hypophosphatasia
0.010 GeneticVariation disease BEFREE In conclusion, we describe a unique case with monoallelic FGFR3 and biallelic ALPL mutations leading to features of both hypochondroplasia and hypophosphatasia. 28763161 2017