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