FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206684
Disease: Sebaceous Adenocarcinoma
Sebaceous Adenocarcinoma
0.010 AlteredExpression disease BEFREE Potentially actionable FGFR2 high-level amplification in thymic sebaceous carcinoma. 31401665 2020
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face
0.010 GeneticVariation group BEFREE Several genes, such as EMX2 and FGFR2, were identified as the cause genital anomalies and facial dysmorphism in 10q26 deletion syndrome. 30711679 2020
CUI: C3875321
Disease: Inflammatory dermatosis
Inflammatory dermatosis
0.010 Biomarker disease BEFREE However, the defect in the epidermal barrier and the resulting inflammatory skin disease that develops in mice lacking FGFR1 and FGFR2 in keratinocytes were further aggravated upon additional loss of FGFR3. 31830366 2020
CUI: C0025490
Disease: Mesonephroma
0.010 GeneticVariation disease BEFREE Herein, we report a case of well-differentiated mesonephric adenocarcinoma with an FGFR2 mutation not previously reported in the literature. 31335448 2019
CUI: C0025500
Disease: Mesothelioma
0.010 AlteredExpression disease BEFREE Notably, FGFR2 was found to be highly expressed in NF2-negative human mesothelioma tissues (11/12 cases, 91.7%) but less expressed in NF2-positive tissues. 30417500 2019
CUI: C0026499
Disease: Monosomy
0.010 GeneticVariation group BEFREE All affected offspring were shown to be carriers of a partial trisomy of chromosome 14 including the FGFR2 gene, which is associated with various dominant inherited craniofacial dysostosis syndromes in man, and partial monosomy of chromosome 8 containing MSX1 known to be associated with tooth agenesis and orofacial clefts in other species. 31068123 2019
CUI: C0029182
Disease: orbit (eye disorders)
orbit (eye disorders)
0.010 Biomarker group BEFREE The Crouzon-Pfeiffer syndrome FGFR2 orbit exhibits early growth acceleration followed by premature growth arrest at 10 to 14 years. 30589795 2019
CUI: C0035335
Disease: Retinoblastoma
0.010 Biomarker disease BEFREE In addition, the disruption of FGFR2 in the NF2-KO cell clone suppressed cell proliferation as well as the phosphorylation levels of JNK, c-Jun, and Rb. 30417500 2019
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas
0.010 AlteredExpression group BEFREE The silencing of FGFR2 was demonstrated to augment the effects of cisplatin treatment, including decreasing the cell viability and inducing cell cycle arrest, which involved the increase and decrease of the durations of G1 and S phases, respectively, and a decrease in the expression levels of cyclin D1 and CDC25A, and increasing the rate of apoptosis via the intrinsic apoptosis pathway, as demonstrated by the upregulation of cleaved caspase‑3 and B‑cell lymphoma 2 (Bcl‑2)‑associated X protein and downregulation of Bcl‑2, in SUNE1 and C666‑1 cell lines. 31115494 2019
CUI: C0266541
Disease: Microphakia
0.010 Biomarker disease BEFREE Mouse lenses lacking FGFR2 exhibit microphakia and reduced ERK and AKT phosphorylation, widespread apoptosis, and defective lens fiber cell differentiation. 31691004 2019
CUI: C0280324
Disease: Laryngeal Squamous Cell Carcinoma
Laryngeal Squamous Cell Carcinoma
0.010 GeneticVariation disease BEFREE To determine the frequency of the genotype of signal transducer and activator of transcription protein 3 (STAT3) rs744166, sirtuin (SIRT1) rs12778366, fibroblast growth factor (FGFR2) rs2981582, and advanced glycosylation end product-specific receptor (RAGE) rs1800625 gene polymorphisms in patients with laryngeal squamous cell carcinoma (LSCC). 31781300 2019
Malignant neoplasm of cardioesophageal junction of stomach
0.010 Biomarker disease BEFREE Bemarituzumab with modified FOLFOX6 for advanced FGFR2-positive gastroesophageal cancer: FIGHT Phase III study design. 31094225 2019
CUI: C0857002
Disease: Scirrhous gastric carcinoma
Scirrhous gastric carcinoma
0.010 Biomarker disease BEFREE OCUM-14 might be useful for elucidating the characteristic mechanisms of SGC and clarifying the effect of FGFR2 inhibitors on SGC. 30652228 2019
CUI: C0936223
Disease: Metastatic Prostate Carcinoma
Metastatic Prostate Carcinoma
0.010 Biomarker disease BEFREE A targeted RNA-sequencing assay identified a KLK2-FGFR2 fusion gene in two patients with metastatic prostate cancer. 31043681 2019
CUI: C1112160
Disease: Gastrooesophageal cancer
Gastrooesophageal cancer
0.010 Biomarker disease BEFREE Bemarituzumab with modified FOLFOX6 for advanced FGFR2-positive gastroesophageal cancer: FIGHT Phase III study design. 31094225 2019
CUI: C1275277
Disease: Soft tissue chondroma
Soft tissue chondroma
0.010 Biomarker disease BEFREE RNA sequencing identified a fusion involving FN1 and fibroblast growth factor receptor 2 (FGFR2) in the case of soft tissue chondroma and FISH confirmed recurrent involvement of both FGFR1 and FGFR2. 31273315 2019
Metastasis from malignant tumor of prostate
0.010 Biomarker disease BEFREE A targeted RNA-sequencing assay identified a KLK2-FGFR2 fusion gene in two patients with metastatic prostate cancer. 31043681 2019
CUI: C1513734
Disease: Solid/Multicystic Ameloblastoma
Solid/Multicystic Ameloblastoma
0.010 GeneticVariation disease BEFREE Among the BRAF wild-type cases, 1 UAM showed a missense SMO mutation (p.L412F), whereas 2 NRAS (p.Q61R), 2 HRAS (p.Q61R), and 2 FGFR2 (p.C383R) activating mutations were identified in AM. 30216733 2019
CUI: C1516419
Disease: Cervical Mesonephric Adenocarcinoma
Cervical Mesonephric Adenocarcinoma
0.010 GeneticVariation disease BEFREE Cervical Mesonephric Adenocarcinoma With Novel FGFR2 Mutation. 31335448 2019
CUI: C1516490
Disease: Cholangiolocellular Carcinoma
Cholangiolocellular Carcinoma
0.010 GeneticVariation disease BEFREE The genomic profile (IDH1/2 mutations, FGFR2 fusions, chromatin-remodeling gene mutations such as ARID1A, PBRM1) and copy number alterations were similar in cholangiolocellular carcinoma, intrahepatic cholangiocarcinoma and mixed cholangiolocellular-intrahepatic cholangiocarcinoma. 31186529 2019
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones
0.010 GeneticVariation phenotype BEFREE Bent bone dysplasia syndrome (BBDS), a congenital skeletal disorder caused by dominant mutations in fibroblast growth factor receptor 2 (FGFR2), is characterized by bowed long bones within the limbs. 30620790 2019
Morphological abnormality of the middle ear
0.010 GeneticVariation phenotype BEFREE Although the middle ear malformations in multiple FGFR2 gain-of-function disorders are clinically characterized, those in the FGFR2 loss-of-function disorder lacrimo-auriculo-dento-digital (LADD) syndrome are relatively undescribed. 30253032 2019
CUI: C3850155
Disease: Congenital Microtia
Congenital Microtia
0.010 GeneticVariation disease BEFREE The rs3135718-G gene in FGFR2 has a certain association with the incidence of congenital microtia with high prevalence and risk. 31258676 2019
CUI: C4045991
Disease: Perihilar Cholangiocarcinoma
Perihilar Cholangiocarcinoma
0.010 Biomarker disease BEFREE SPRY4 expression can be induced by ectopic FGFR2 activation in PHCC. 31761616 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.010 Biomarker disease BEFREE NEGR1 and FGFR2 cooperatively regulate cortical development and core behaviours related to autism disorders in mice. 30059965 2018