Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4791
Gene Symbol: NFKB2
NFKB2 		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
Entrez Id: 4791
Gene Symbol: NFKB2
NFKB2 		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
Entrez Id: 4791
Gene Symbol: NFKB2
NFKB2 		0.630 CausalMutation disease CLINVAR Defective natural killer-cell cytotoxic activity in NFKB2-mutated CVID-like disease. 25605273 2015
Entrez Id: 4791
Gene Symbol: NFKB2
NFKB2 		0.630 Biomarker disease GENOMICS_ENGLAND Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency. 26279205 2015
Entrez Id: 4791
Gene Symbol: NFKB2
NFKB2 		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
Entrez Id: 4791
Gene Symbol: NFKB2
NFKB2 		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
Entrez Id: 4791
Gene Symbol: NFKB2
NFKB2 		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
Entrez Id: 4791
Gene Symbol: NFKB2
NFKB2 		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
Entrez Id: 4791
Gene Symbol: NFKB2
NFKB2 		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
Entrez Id: 4791
Gene Symbol: NFKB2
NFKB2 		0.630 GeneticVariation disease UNIPROT Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency. 24140114 2013
Entrez Id: 4791
Gene Symbol: NFKB2
NFKB2 		0.630 GeneticVariation disease CLINVAR Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency. 24140114 2013
Entrez Id: 4791
Gene Symbol: NFKB2
NFKB2 		0.630 GeneticVariation disease CLINVAR beta-TrCP binding and processing of NF-kappaB2/p100 involve its phosphorylation at serines 866 and 870. 16303288 2006
Entrez Id: 5443
Gene Symbol: POMC
POMC 		0.010 Biomarker disease BEFREE Deficient anterior pituitary with variable immune deficiency (DAVID) syndrome is a rare disorder in which children present with symptomatic adrenocorticotropic hormone (ACTH) deficiency preceded by hypogammaglobulinemia from B-cell dysfunction with recurrent infections, called common variable immunodeficiency (CVID). 28472507 2017