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 |
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 |
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 |
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 |
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 |
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 |
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 |
Common Variable Immunodeficiency
|
0.560 |
Biomarker
|
disease |
CTD_human |
|
|
|
Primary biliary cirrhosis
|
0.420 |
GeneticVariation
|
disease |
GWASCAT |
A genome-wide association study identifies six novel risk loci for primary biliary cholangitis.
|
28425483 |
2017 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |