NFKB1, nuclear factor kappa B subunit 1, 4790

N. diseases: 551; N. variants: 52
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0235950
Disease: Zinc deficiency
Zinc deficiency
0.010 AlteredExpression disease BEFREE Decreased NF-kappaB activation in HUT-78 due to zinc deficiency was due to decreased binding of NF-kappaB to DNA, decreased level of NF-kappaB p105 (the precursor of NF-kappaB p50) mRNA, decreased kappaB inhibitory protein (IkappaB) phosphorylation, and decreased Ikappa kappa. 18385818 2008
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Well-differentiated papillary mesothelioma
0.010 AlteredExpression disease BEFREE Additionally, all well-differentiated papillary mesothelioma demonstrated robust expression of L1 cell adhesion molecule (L1CAM), a marker of NF-kB pathway activation, similar to that observed in adenomatoid tumors. 30171198 2019
Well Differentiated Pancreatic Endocrine Tumor
0.010 GeneticVariation disease BEFREE Although the frequencies of I and D alleles and genotype distribution did not differ between the study and control groups, there seem to be important differences concerning the DD genotype analyses of the NFKB1 -94ins/delATTG promoter polymorphism between patients with pancreatic neuroendocrine tumor and those with carcinoid tumor. 19752553 2009
CUI: C0042769
Disease: Virus Diseases
Virus Diseases
0.060 AlteredExpression group BEFREE Deregulation of microRNA-155 and its transcription factor NF-kB by polychlorinated biphenyls during viral infections. 29380441 2018
CUI: C0042769
Disease: Virus Diseases
Virus Diseases
0.060 Biomarker group BEFREE Virus infection does not appear to alter the amount of RelA (p65) or NFKB1 (p50) but rather affects the capacity of I kappa B alpha to sequester RelA (p65), therefore leading to constitutive levels of RelA DNA binding activity and to increased levels of NF-kappa B-dependent gene activity. 8394446 1993
CUI: C0042769
Disease: Virus Diseases
Virus Diseases
0.060 Biomarker group BEFREE Chromatin immunoprecipitation experiments indicated that binding of NFkappaB p65 and p50 subunits to the IL-8 promoter upon viral infection was differentially reduced by chemical inhibitors of MAPKs. 20038977 2009
CUI: C0042769
Disease: Virus Diseases
Virus Diseases
0.060 Biomarker group BEFREE The human TLR3 isoform in human iPSC-NSC functions to suppress NF-KB p65 signaling pathway in response to virus (Poly IC), suggesting suppressed immunity of iPSC-derived cells to viral infection. 30664289 2019
CUI: C0042769
Disease: Virus Diseases
Virus Diseases
0.060 Biomarker group BEFREE Effect of active compounds on NF-kB and MAPK signaling pathways after virus infection was determined by ELISA. 29157813 2017
CUI: C0042769
Disease: Virus Diseases
Virus Diseases
0.060 AlteredExpression group BEFREE Activation of NF-kB and STAT-3 most likely contribute to the progression of viral infections to chronic hepatitis and liver oncogenesis associated with HBV and HCV infections. 12734409 2003
CUI: C0276138
Disease: Viral myocarditis
Viral myocarditis
0.010 GeneticVariation disease BEFREE Results indicated that andrographolide treatment reduced serum levels of TNF-α, hs-CRP and cTnl, increased the expression levels of IL-10 and STAT3 and reduced the expression levels of NF-κβ p65 and NF-κβ p50 and the phosphorylation levels of phosphoinositide 3-kinase (P13K) and AKT in the heart tissues of mice with VMC. 30186451 2018
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
0.010 GeneticVariation phenotype BEFREE In patients who received prophylaxis with low dose aspirin a single-nucleotide polymorphism in NFκB1 (rs3774968) gene was associated with increased risk of VTE (OR 3.76, 95%CI 1-16, P = 0.051). 23757261 2013
CUI: C0042384
Disease: Vasculitis
Vasculitis
0.110 GeneticVariation disease BEFREE Since GCA is a polygenic disease, we sought to assess the potential role of the -94ins/delATTG NFKB1 promoter polymorphism in susceptibility to GCA and to determine if this polymorphism is implicated in the clinical expression of this vasculitis. 16465659 2006
CUI: C0042384
Disease: Vasculitis
Vasculitis
0.110 Biomarker disease HPO
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
0.100 Biomarker phenotype HPO
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.010 AlteredExpression disease BEFREE Activation of NFκB1/p50 was evaluated in 75 cases of uveal melanoma by immunohistochemistry. mRNA expression in 58 fresh UM specimen was measured by quantitative reverse-transcriptase PCR (qRT-PCR). 31533021 2019
CUI: C2145472
Disease: Urothelial Carcinoma
Urothelial Carcinoma
0.010 AlteredExpression disease BEFREE PINA4MS app in cytoscape revealed over expression of RelA and suppression of NF-κB1 (p50 precursor) in UC whereas the expression of NF-κB target proteins remained unhindered. 30225173 2018
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
0.100 GeneticVariation phenotype GWASCAT Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population. 29124443 2018
CUI: C0041956
Disease: Ureteral obstruction
Ureteral obstruction
0.010 Biomarker phenotype BEFREE We tested the function of NF-κB1 in an acute (nephrotoxic serum (NTS) nephritis) and a chronic (unilateral ureteric obstruction (UUO)) model of renal injury using NF-κB1 (nfκb1<sup>-/-</sup>) knockout mice. 28617440 2017
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.200 GeneticVariation disease BEFREE Functional annotation of a novel NFKB1 promoter polymorphism that increases risk for ulcerative colitis. 14613970 2004
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.200 GeneticVariation disease BEFREE Mutations involving the NF-kB pathway and epigenetic regulation were more common in ulcerative colitis-associated CRCs than in sporadic CRCs. 30794281 2019
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.200 GeneticVariation disease GWASDB Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 23128233 2012
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.200 GeneticVariation disease BEFREE In previous studies the NFKBIA 3'UTR (untranslated region) AA genotype was associated with Crohn's disease (CD), while the NFKB1-94ins/delATTG mutation increased the risk for ulcerative colitis (UC). 18716880 2009
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.200 GeneticVariation disease BEFREE Polymorphisms of 3 candidate genes (PTPN22, NFkB1, and FcGRIIIA) were investigated in 649 IBD patients (343 with Crohn's disease [CD] and 306 with ulcerative colitis [UC]), 176 unaffected relatives, and 256 healthy controls. 17600378 2007
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.200 Biomarker disease BEFREE Proteasome-mediated degradation of IkappaBalpha and processing of p105 in Crohn disease and ulcerative colitis. 17124531 2006