NFKBIA, NFKB inhibitor alpha, 4792

N. diseases: 226; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.350 GeneticVariation disease BEFREE The current study examined associations of polymorphisms within promoter regions of NFKB1 encoding NF-κB1 and NFKBIA encoding IκBα with the susceptibility of developing HCC and clinicopathological characteristics of the tumors. 23457512 2013
Ectodermal dysplasia, hypohidrotic, with immune deficiency
0.350 GeneticVariation disease BEFREE Hypomorphic mutations in the X-linked NEMO gene and hypermorphic mutations in the autosomal IKBA gene cause X-linked recessive and autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) syndromes. 21734245 2011
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.350 Therapeutic disease CTD_human Hepatocyte IKK2 protects Mdr2-/- mice from chronic liver failure. 22022477 2011
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.350 GeneticVariation disease BEFREE By multivariate regression analysis, NFKB1 -94ATTG2, NFKBIA -826T, NFKBIA -881AG and HBV genotype C were independently associated with an increased risk of HCC. 19797428 2009
Ectodermal dysplasia, hypohidrotic, with immune deficiency
0.350 GermlineCausalMutation disease ORPHANET A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency. 18412279 2008
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.350 GeneticVariation disease BEFREE In this review, we focus on polymorphisms of the NFKB and NFKBI genes in relation to development of common inflammatory diseases including ulcerative colitis (UC), Crohn's disease (CD), rheumatoid arthritis, systemic lupus erythematosus, psoriatic arthritis, giant cell arthritis, type 1 diabetes, multiple sclerosis, celiac disease, and Parkinson's disease, as well as susceptibility of several cancers, such as oral squamous cell carcinoma, colorectal cancer (CRC), hepatocellular carcinoma, breast cancer and myeloma. 17701919 2007
Ectodermal dysplasia, hypohidrotic, with immune deficiency
0.350 GeneticVariation disease BEFREE Subjects with anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) carry either X-linked recessive hypomorphic mutations in NEMO or autosomal dominant hypermorphic mutations in IKBA. 15661018 2005
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.350 Biomarker disease BEFREE Immunohistochemical staining to search for active nuclear RelA and nuclear IkappaBalpha proteins were done on formalin fixed liver tissues from 65 patients with HCC and from 9 normal control participants. 11147598 2000
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.350 Biomarker disease BEFREE IkappaBalpha gene therapy in tumor necrosis factor-alpha- and chemotherapy-mediated apoptosis of hepatocellular carcinomas. 11059688 2000
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.330 GeneticVariation disease BEFREE One variant in NFKBIA, rs12883343, had a significantly different association with psoriatic arthritis than with cutaneous psoriasis (p = 4.93×10-10, odds ratio 2.371). 30176044 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.330 GeneticVariation disease BEFREE To explore the association of NFKB1 c.-798_-795delATTG (rs28362491), NFKBIA c.-949C>T (rs2233406), IL-8 c.-352A>T (rs4073), IL-10 c.-854T>C (rs1800871), TNF c.-418G>A (rs361525), and TNF c.-488G>A (rs1800629) polymorphisms with breast cancer risk in an East Chinese population. 25559835 2014
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.330 GeneticVariation disease BEFREE We identified the missense variant rs2303138 (p.Ala763Thr) within the LNPEP gene associated with psoriasis (Pcombined=1.83 × 10(-13), odds ratio=1.16) and validated four previously reported genes: IL28RA, NFKBIA, TRAF3IP2, and CARD14 (9.74 × 10(-11)P9.37 × 10(-5)), which confirmed the involvement of the nuclear factor-κB signaling pathway in psoriasis pathogenesis. 23897274 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.330 GeneticVariation disease BEFREE To explore the association of NFKB1 c.-798_-795delATTG (rs28362491), NFKBIA c.-949C>T (rs2233406), IL-8 c.-352A>T (rs4073), IL-10 c.-854T>C (rs1800871), TNF c.-418G>A (rs361525), and TNF c.-488G>A (rs1800629) polymorphisms with breast cancer risk in an East Chinese population. 25559835 2014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.330 AlteredExpression disease BEFREE Functional analysis revealed that in CAFs, genes associated with proliferation (NRG1, WNT5A, PDGFC) were down regulated and those involved in immune modulation (NFKBIA, TREM-1) were up regulated, consistent with anti tumor activities of 1,25D in breast cancer. 22939885 2013
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.330 Biomarker disease BEFREE These results showed that two common susceptibility loci (NFKBIA and IL28RA) are shared by psoriasis and SLE in the Chinese Han population. 24070858 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.330 AlteredExpression disease BEFREE Functional analysis revealed that in CAFs, genes associated with proliferation (NRG1, WNT5A, PDGFC) were down regulated and those involved in immune modulation (NFKBIA, TREM-1) were up regulated, consistent with anti tumor activities of 1,25D in breast cancer. 22939885 2013
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.330 Biomarker disease CTD_human A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. 20953190 2010
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.330 GeneticVariation disease BEFREE In this review, we focus on polymorphisms of the NFKB and NFKBI genes in relation to development of common inflammatory diseases including ulcerative colitis (UC), Crohn's disease (CD), rheumatoid arthritis, systemic lupus erythematosus, psoriatic arthritis, giant cell arthritis, type 1 diabetes, multiple sclerosis, celiac disease, and Parkinson's disease, as well as susceptibility of several cancers, such as oral squamous cell carcinoma, colorectal cancer (CRC), hepatocellular carcinoma, breast cancer and myeloma. 17701919 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.330 GeneticVariation disease BEFREE In this review, we focus on polymorphisms of the NFKB and NFKBI genes in relation to development of common inflammatory diseases including ulcerative colitis (UC), Crohn's disease (CD), rheumatoid arthritis, systemic lupus erythematosus, psoriatic arthritis, giant cell arthritis, type 1 diabetes, multiple sclerosis, celiac disease, and Parkinson's disease, as well as susceptibility of several cancers, such as oral squamous cell carcinoma, colorectal cancer (CRC), hepatocellular carcinoma, breast cancer and myeloma. 17701919 2007
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.330 Biomarker disease CTD_human ERE-independent ERalpha target genes differentially expressed in human breast tumors. 16298037 2005
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.330 Biomarker disease CTD_human ERE-independent ERalpha target genes differentially expressed in human breast tumors. 16298037 2005
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
0.320 GeneticVariation disease BEFREE The identified loss-of-function mutations in NFKBIA leading to protein truncation contributed to the altered NF-κB activity, which is critical for NPC tumorigenesis. 27647909 2016
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
0.320 SomaticCausalMutation disease ORPHANET The identified loss-of-function mutations in NFKBIA leading to protein truncation contributed to the altered NF-κB activity, which is critical for NPC tumorigenesis. 27647909 2016
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
0.320 Biomarker disease BEFREE In addition to expression of the viral oncoprotein LMP1, genetic alteration of several NF-κB regulators (eg TRAF3, TRAF2, NFKBIA, A20) also contributes to the aberrant NF-κB activation in EBV-associated NPC. 23868181 2013
Nodular Lymphocyte Predominant Hodgkin Lymphoma
0.310 GeneticVariation disease BEFREE The low mutation frequency and the absence of biallelic destructive mutations propose a minor contribution of NFKBIA and TNFAIP3 mutations to the NF-kappaB activity of NLPHL, suggesting different mechanisms of NF-kappaB activation in NLPHL and cHL. 19648161 2010