Human | NOD2 | 64127 | nucleotide-binding oligomerization domain containing 2 | Duration of disease and ethnicity, irrespective of NOD2/CARD15 genotype and age of onset, were the only predictors for penetrating or stricturing disease in pediatric patients with Crohn's disease Meta-analysis confirmed significant associations between NOD2/CARD15 variants and both ileal and ileocolonic Crohn's disease locations, and with both stricturing and penetrating forms of disease behavior |
Human | FAM20C | 56975 | family with sequence similarity 20, member C | |
Human | VEGFA | 7422 | vascular endothelial growth factor A | The angiogenic growth factor VEGF-A is strongly expressed in hyperplastic epithelium overlying granulation tissue in airway stenosis An intense expression of VEGF and MMP-9 in carotid plaques is related to plaque instability, high degree of stenosis and presence of symptomatic carotid occlusive disease |
Human | VDR | 7421 | vitamin D (1,25- dihydroxyvitamin D3) receptor | Title:|Association:Y|Conclusion:There is a significant association of vitamin D receptor polymorphism with calcific aortic valve stenosis. The B allele of the vitamin D receptor is more common in patients with calcific aortic valve stenosis. It now needs to be evaluated whether other genes that control calcium homeostasis are involved in the pathogenesis of this disorder. |
Human | UBTF | 7343 | upstream binding transcription factor, RNA polymerase I | results suggest that extensive binding of UBF is responsible for formation and maintenance of the secondary constriction at active NORs, and that UBF mediates recruitment of the pol I machinery to nucleoli independently of promoter elements |
Human | TNF | 7124 | tumor necrosis factor | Allelic composition at the examined SNPs in genes coding for TIMP-1 and MMP-3 affect Crohn's disease susceptibility and/or phenotype, i.e., fistulizing disease, stricture pathogenesis and first disease localisation |
Human | TLR4 | 7099 | toll-like receptor 4 | Suggest that TLR2/4 may play role in aortic valve inflammation and stenosis |
Human | TGFB1 | 7040 | transforming growth factor, beta 1 | While a weak subepithelial proliferation occurs in stent-related stenoses, the dominant factor in late stages of untreated tracheal stenoses seems to be the high-level expression of TGF-beta1 and the deposition of extracellular matrix |
Human | TBCE | 6905 | tubulin folding cofactor E | Medullary stenosis of tubular bones |
Human | CCL5 | 6352 | chemokine (C-C motif) ligand 5 | The frequency of the RANTES-403G allele was significantly higher in patients with stenosis >70% (OR, 2.45; 95% CI 1.12-5.71; p=0.015) |
Human | PTPN11 | 5781 | protein tyrosine phosphatase, non-receptor type 11 | The most prevalent links to PTPN11 gene dysfunction in cardiac development in patients with a PTPN11 mutation are pulmonary valve stenosis, atrial septal defect, ostium secundum type, and stenosis of the peripheral pulmonary arteries |
Human | PLAU | 5328 | plasminogen activator, urokinase | Increased expression of urokinase during atherosclerotic lesion development causes arterial constriction and lumen loss, and accelerates lesion growth |
Human | PECAM1 | 5175 | platelet/endothelial cell adhesion molecule 1 | platelet endothelial cell adhesion molecule-1 (PECAM-1) gene is responsive to shear stress in vitro and that decreased PECAM-1 gene expression in 53A carriers may influence reduced progression of vessel stenosis in patients with coronary artery disease |
Human | NPPB | 4879 | natriuretic peptide B | Basal BNP level testing can be recommended in the follow-up evaluation percutaneous coronary intervention, to improve both the detection and the exclusion of asymptomatic re-stenosis |
Human | NOS3 | 4846 | nitric oxide synthase 3 (endothelial cell) | Title:Endothelial nitric oxide synthase gene is associated with vessel stenosis in Korean population.|Association:Y|Conclusion:Our data suggest that eNOS gene polymorphisms may play an important role in the pathogenesis of vessel stenosis in Korean population. |
Human | MEF2A | 4205 | myocyte enhancer factor 2A | Coronary angiogram showing greater than 70% stenosis |
Human | ITGB4 | 3691 | integrin, beta 4 | Ureterovesical junction stenosis |
Human | ITGAL | 3683 | integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) | Increased expression or CD11A may affect the development of initial atherosclerotic coronary stenosis, but not re-stenosis |
Human | ITGA6 | 3655 | integrin, alpha 6 | Ureterovesical junction stenosis |
Human | INS | 3630 | insulin | C-peptide may reduce diabetes-induced hyperfiltration via constriction of the afferent arteriole |
Human | ICAM1 | 3383 | intercellular adhesion molecule 1 | Increased expression of ICAM1 may affect the development of initial atherosclerotic coronary stenosis, but not re-stenosis |
Human | HOXA2 | 3199 | homeobox A2 | Near-stenosis of bony portion of auditory canal |
Human | GLRA1 | 2741 | glycine receptor, alpha 1 | Model channels built on non-alpha chains have a constriction either near the intracellular mouth or more centrally located in the pore domain |
Human | FGFR2 | 2263 | fibroblast growth factor receptor 2 | Jugular foraminal stenosis Choanal atresia or stenosis |
Human | FGFR1 | 2260 | fibroblast growth factor receptor 1 | Choanal atresia or stenosis |