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: C0086438
Disease: Hypogammaglobulinemia
Hypogammaglobulinemia
0.010 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