NFKB2, nuclear factor kappa B subunit 2, 4791

N. diseases: 194; N. variants: 12
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809991
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10
IMMUNODEFICIENCY, COMMON VARIABLE, 10 		0.630 GeneticVariation disease BEFREE To our knowledge, this is the first report of central diabetes insipidus in a patient with DAVID syndrome due to an NFKB2 mutation. 31150062 2019
CUI: C3809991
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10
IMMUNODEFICIENCY, COMMON VARIABLE, 10 		0.630 GeneticVariation disease BEFREE Subsequent whole exome sequencing studies have revealed germline heterozygous C-terminal mutations of NFKB2 as a cause of DAVID syndrome or of CVID without clinical hypopituitarism. 28472507 2017
CUI: C3809991
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10
IMMUNODEFICIENCY, COMMON VARIABLE, 10 		0.630 CausalMutation disease CLINVAR Defective natural killer-cell cytotoxic activity in NFKB2-mutated CVID-like disease. 25605273 2015
CUI: C3809991
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10
IMMUNODEFICIENCY, COMMON VARIABLE, 10 		0.630 Biomarker disease GENOMICS_ENGLAND Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency. 26279205 2015
CUI: C3809991
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10
IMMUNODEFICIENCY, COMMON VARIABLE, 10 		0.630 CausalMutation disease CLINVAR Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families. 24702956 2014
CUI: C3809991
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10
IMMUNODEFICIENCY, COMMON VARIABLE, 10 		0.630 GeneticVariation disease UNIPROT Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies. 25524009 2014
CUI: C3809991
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10
IMMUNODEFICIENCY, COMMON VARIABLE, 10 		0.630 Biomarker disease GENOMICS_ENGLAND Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies. 25524009 2014
CUI: C3809991
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10
IMMUNODEFICIENCY, COMMON VARIABLE, 10 		0.630 CausalMutation disease CLINVAR Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies. 25524009 2014
CUI: C3809991
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10
IMMUNODEFICIENCY, COMMON VARIABLE, 10 		0.630 GeneticVariation disease BEFREE Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies. 25524009 2014
CUI: C3809991
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10
IMMUNODEFICIENCY, COMMON VARIABLE, 10 		0.630 GeneticVariation disease UNIPROT Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency. 24140114 2013
CUI: C3809991
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10
IMMUNODEFICIENCY, COMMON VARIABLE, 10 		0.630 GeneticVariation disease CLINVAR Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency. 24140114 2013
CUI: C3809991
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10
IMMUNODEFICIENCY, COMMON VARIABLE, 10 		0.630 GeneticVariation disease CLINVAR beta-TrCP binding and processing of NF-kappaB2/p100 involve its phosphorylation at serines 866 and 870. 16303288 2006