NFKB1, nuclear factor kappa B subunit 1, 4790

N. diseases: 551; N. variants: 52
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225277
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12
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
CUI: C4225277
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12
IMMUNODEFICIENCY, COMMON VARIABLE, 12 		0.400 CausalMutation disease CLINVAR Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics. 29077208 2018
CUI: C4225277
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12
IMMUNODEFICIENCY, COMMON VARIABLE, 12 		0.400 Biomarker disease GENOMICS_ENGLAND Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency. 26279205 2015
CUI: C4225277
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12
IMMUNODEFICIENCY, COMMON VARIABLE, 12 		0.400 GeneticVariation disease CLINVAR