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: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.560 GeneticVariation disease BEFREE Recently, haploinsufficiency of NF-κB1 has been described in three families with common variable immunodeficiency (CVID). 27338827 2016
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.560 GeneticVariation disease BEFREE We show that heterozygous loss-of-function variants in NFKB1 are the most common known monogenic cause of CVID, which results in a temporally progressive defect in the formation of immunoglobulin-producing B cells. 29477724 2018
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.420 GeneticVariation disease GWASCAT A genome-wide association study identifies six novel risk loci for primary biliary cholangitis. 28425483 2017
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.420 GeneticVariation disease BEFREE Among 21 non-HLA susceptibility loci for PBC identified in GWASs of individuals of European descent, three loci (IL7R, IKZF3, and CD80) showed significant associations (combined p = 3.66 × 10(-8), 3.66 × 10(-9), and 3.04 × 10(-9), respectively) and STAT4 and NFKB1 loci showed suggestive association with PBC (combined p = 1.11 × 10(-6) and 1.42 × 10(-7), respectively) in the Japanese population. 23000144 2012
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.420 GeneticVariation disease GWASCAT Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population. 28062665 2017
CUI: C4225277
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12
IMMUNODEFICIENCY, COMMON VARIABLE, 12 		0.400 GeneticVariation disease CLINVAR
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.370 GeneticVariation group LHGDN Clinical biology of esophageal adenocarcinoma after surgery is influenced by nuclear factor-kappaB expression. 17548685 2007
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.370 GeneticVariation disease BEFREE The SNPs selected from genes within the canonical NF-κB pathway (including NFKB1, RELA and REL), which played a critical role in innate immune responses were genotyped using pyrosequencing method and analyzed in relation to the risk of development of sepsis and multiple organ dysfunction (MOD) syndrome. 25880845 2015
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.370 GeneticVariation disease BEFREE We analyzed SUMO4 M55V and NFKB1-94del/ins variants in 104 patients with type-2 diabetes and 124 healthy controls using the polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) techniques. 25189908 2015
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.370 GeneticVariation disease BEFREE We examined the CA repeat polymorphism of the NFKB1 gene (encoding for NFkappaB) and A/G point variation in the 3'UTR region of the nuclear factor kappa B inhibitor alpha (NFKBIA) gene (encoding for IkappaB) in Czech and German patients with type 2 diabetes. 17002901 2006
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.370 GeneticVariation disease BEFREE The NFKB1 variants were significantly associated with T2DM: rs7667496 p = 0.01, OR = 1.68; and rs28362491 p = 0.02, OR = 1.67. 29601852 2018
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.350 GeneticVariation disease BEFREE We found an association between the presence of the deletion allele in NFKB1 polymorphism and ALC in patients with alcohol dependence. 19673747 2009
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.350 GeneticVariation disease LHGDN NF-kappaB regulates many genes relevant to brain function, and its actions can be potentiated by ethanol; thus, NFKB1 is an excellent candidate gene for alcoholism. 18079108 2008
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.350 GeneticVariation disease BEFREE The present study analyzed potential relationships between alcoholism or alcoholic liver disease (ALD) and IL12B 2124 G>T (rs1368439), IL16 5000 C>T (rs1131445), IL1R1 3114 C>T (rs3917328), and NFKB1 3400 A>G (rs4648143) polymorphisms. 29566963 2018
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.350 GeneticVariation disease BEFREE Polymorphisms of human NF-κB1 and other innate immune genes contribute to genetic risk for alcoholism. 21402143 2011
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.340 GeneticVariation group BEFREE A total of 258 male alcoholics (161 without liver disease and 97 with ALC) and 101 healthy controls were genotyped for the -94ins/delATTG NFKB1, 3'-UTR+126G>A NFKBIA, and 34C>G PPARG2 polymorphisms. 19673747 2009
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.340 GeneticVariation group BEFREE In this case-control study, 559 subjects (343 patients with HCV infection including 237 mild chronic hepatitis patients and 106 patients with Advanced Liver Disease (AdLD), 78 individuals who naturally cleared HCV and 138 healthy subjects) were genotyped for the NFκB1 and NFκBIA SNPs using PCR-RFLP. 26827631 2016
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.330 GeneticVariation disease BEFREE The most significant finding (nominal P = 0.0004; false discovery rate q = 0.037) was a combined genotype association across IKBKB SNP rs5029748 (1 or 2 variant alleles), IL6 rs1800797 (1 or 2 variant alleles), and NFKB1 rs4648110 (2 variant alleles) which conferred an ~80% decreased risk of colon cancer. 21129206 2010
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.330 GeneticVariation disease BEFREE IκBKβ's rs6474387 (C>T intron 20) and rs11986055 (A>C intron 2) showed substantially lower colon cancer risk among current NSAID users (P(interaction) = 0.01 and P(interaction) = 0.045, respectively), whereas NFκB1's rs230490 (G>A 5' (outside UTR)) and rs997476 (C>A 3' (outside UTR)) showed higher CRC risk among current NSAID users (P(interaction) = 0.01 and P(interaction) = 0.03, respectively). 23002237 2013
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia 		0.320 GeneticVariation disease BEFREE Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans. 29477724 2018
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		0.310 GeneticVariation disease BEFREE These results suggest that variants of transcription factor FOXP3 and NF-kB1 might be associated with increased risk to the clinical outcome of ESRD and renal allograft survival. 26794449 2016
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