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 Biomarker disease BEFREE The prototypic clinical phenotype of NFKB1-deficient patients includes common CVID features, such as hypogammaglobulinaemia and sinopulmonary infections, plus other highly variable individual manifestations. 30063981 2018
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: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency
0.560 Biomarker disease BEFREE Nuclear factor kappa-light-chain-enhancer of activated B cells 1 (NF-κB1)-related human primary immune deficiencies have initially been characterized as defining a subgroup of common variable immunodeficiencies (CVIDs), representing intrinsic B-cell disorders with antibody deficiency and recurrent infections of various kind. 29403474 2017
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency
0.560 Biomarker disease BEFREE NFKB1, a component of the canonical NF-κB pathway, was recently reported to be mutated in a limited number of CVID patients. 27923702 2017
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 GermlineCausalMutation disease ORPHANET Given that residual p105 and p50—translated from the non-mutated alleles—were normal, and altered p50 proteins were absent, we conclude that the CVID phenotype in these families is caused by NF-κB1 p50 haploinsufficiency. 26279205 2015
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency
0.560 Biomarker disease BEFREE Given that residual p105 and p50—translated from the non-mutated alleles—were normal, and altered p50 proteins were absent, we conclude that the CVID phenotype in these families is caused by NF-κB1 p50 haploinsufficiency. 26279205 2015
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency
0.560 Biomarker disease CTD_human
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 GWASCAT Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population. 28062665 2017
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.420 Biomarker disease BEFREE TNFSF15 and ICOSLG-CXCR5 might constitute a shared pathogenic pathway in the development of PBC and CD in the Japanese population, whereas IL12B-STAT4-NFKB1 might constitute an opposite pathogenic pathway, reflecting the different balance between Th1 and Th17 in the two diseases. 26084578 2015
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 Biomarker disease CTD_human Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. 21399635 2011
IMMUNODEFICIENCY, COMMON VARIABLE, 12
0.400 Biomarker disease GENOMICS_ENGLAND Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans. 29477724 2018
IMMUNODEFICIENCY, COMMON VARIABLE, 12
0.400 CausalMutation disease CLINVAR Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics. 29077208 2018
CUI: C1846546
Disease: Recurrent sinopulmonary infections
Recurrent sinopulmonary infections
0.400 Biomarker phenotype GENOMICS_ENGLAND Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency. 26279205 2015
IMMUNODEFICIENCY, COMMON VARIABLE, 12
0.400 Biomarker disease GENOMICS_ENGLAND Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency. 26279205 2015
CUI: C1846546
Disease: Recurrent sinopulmonary infections
Recurrent sinopulmonary infections
0.400 Biomarker phenotype HPO
IMMUNODEFICIENCY, COMMON VARIABLE, 12
0.400 GeneticVariation disease CLINVAR
Diabetes Mellitus, Non-Insulin-Dependent
0.370 Biomarker disease BEFREE Three hub genes (IL-6, NFKB1, and PIK3CG) had the highest degree in PPI networks of both peri-implantitis and T2DM. 31275749 2019
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: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.370 AlteredExpression group BEFREE All cases of adenocarcinoma showed strong expression of both RELA and NFκB-1. 26990751 2017
Diabetes Mellitus, Non-Insulin-Dependent
0.370 AlteredExpression disease BEFREE The T2D enrichment signal was largely due to multiple genes of modest effects (P = 4 × 10(-4), after removing known loci), highlighting new associations for follow-up (ACSL1, NFKB1, SLC2A2, incretin targets). 25368101 2015
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
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