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: C0043352
Disease: Xerostomia
Xerostomia 		0.100 Biomarker disease HPO
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		0.100 Biomarker phenotype HPO
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		0.100 GeneticVariation phenotype CLINVAR
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		0.010 Biomarker disease BEFREE Finally, within the transcriptional framework of VL, we identify five novel molecules (STAT1, PRKCD, PTPN6, MYC and FGFR2) that lend themselves to being targeted by drugs for future potential VL-therapy. 28129744 2017
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.010 Biomarker disease BEFREE Finally, within the transcriptional framework of VL, we identify five novel molecules (STAT1, PRKCD, PTPN6, MYC and FGFR2) that lend themselves to being targeted by drugs for future potential VL-therapy. 28129744 2017
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		0.100 Biomarker phenotype HPO
CUI: C4021977
Disease: Visceral angiomatosis
Visceral angiomatosis 		0.100 Biomarker disease HPO
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		0.010 Biomarker group BEFREE Moreover, we showed that the alternative splicing event of FGFR2 is associated with virus infection, tumor size, cirrhosis and tumor recurrence. 24141781 2014
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		0.110 Biomarker disease HPO
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		0.110 Biomarker disease BEFREE Loss of Fgfr2 in the MM leads to many renal and urinary tract anomalies as well as vesicoureteral reflux. 21222001 2011
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.100 Biomarker disease HPO
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.110 GeneticVariation group BEFREE The predominant cardiac defects in Fgfr2-IIIb mutant embryos are ventricular septal defects associated with overriding aorta or double outlet right ventricle. 16687131 2006
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.110 Biomarker group HPO
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		0.100 Biomarker phenotype HPO
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		0.100 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
CUI: C2145472
Disease: Urothelial Carcinoma
Urothelial Carcinoma 		0.020 AlteredExpression disease BEFREE This allowed identifying eight mutations of interest in two patients: FGFR3, PDGFRB, and CREBBP missense single-nucleotide variants (SNVs) in an urothelial carcinoma; FGFR2, FBXW7, TP53, and MLH1 missense SNVs as well as an ATM frameshift mutation in a squamous cell carcinoma of the tongue. 26598538 2016
CUI: C2145472
Disease: Urothelial Carcinoma
Urothelial Carcinoma 		0.020 Biomarker disease BEFREE Erdafitinib (Balversa™, Janssen Pharmaceutical Companies) is a pan-fibroblast growth factor receptor (FGFR) inhibitor that was recently approved in the USA for the treatment of locally advanced or metastatic FGFR3 or FGFR2 urothelial carcinoma. 31161538 2019
CUI: C0042063
Disease: Urogenital Abnormalities
Urogenital Abnormalities 		0.010 GeneticVariation group BEFREE Antley-Bixler syndrome (ABS) represents a group of heterogeneous disorders characterized by skeletal, cardiac, and urogenital abnormalities that have frequently been associated with mutations in fibroblast growth factor receptor 2 or cytochrome P450 reductase genes. 21705796 2011
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.030 GeneticVariation disease BEFREE The opposite trends for severity of syndactyly and cleft palate in relation to the two mutations may relate to the varying patterns of temporal and tissue-specific expression of different fibroblast growth factors, the ligands for FGFR2. 8651276 1996
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.030 AlteredExpression disease BEFREE Fgfr2 continues to express in palate on E12.5 and E13.5 in both epithelial and mesenchymal cells, and inactivation of Fgfr2 expression in mesenchymal cells using floxed Fgfr2 allele and Osr2-Cre leads to cleft palate at various stages including reorientation, horizontal growth and fusion. 29526646 2018
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.030 Biomarker disease BEFREE Here we try to review recent progress toward a detailed understanding of FGF signaling including FGF7, FGF8, FGF9, FGF10, FGF18 and their receptors FGFR1, FGFR2 in palate development studies and discuss how they interact with other factors on the basis of animal studies regarding cleft palate. 29655165 2018
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		0.100 Biomarker phenotype HPO
CUI: C0740852
Disease: Upper airway obstruction
Upper airway obstruction 		0.100 Biomarker disease HPO
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		0.100 Biomarker phenotype HPO
CUI: C0432124
Disease: Unicoronal craniosynostosis
Unicoronal craniosynostosis 		0.010 GeneticVariation disease BEFREE We describe a novel heterozygous mutation of FGFR2 (943G --> T, encoding the amino acid substitution Ala315Ser) in a girl with non-syndromic unicoronal craniosynostosis. 10951518 2000