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GENE - TERM ANNOTATION REPORT

RGD ID: 1307189
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Nfkb2
Name: nuclear factor kappa B subunit 2
Acc ID: DOID:0081152
Term: common variable immunodeficiency 10
Definition: A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the NFKB2 gene on chromosome 10q24. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/24140114/ "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Nfkb2 ISONFKB2 (Homo sapiens)7240710OMIM  
Nfkb2 ISONFKB2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: DEFICIT IN ANTERIOR PITUITARY FUNCTION AND VARIABLE IMMUNODEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 10PMID:16199547 PMID:16303288 PMID:17576681 PMID:22013103 PMID:24033266 PMID:24140114 PMID:24702956 PMID:24888602 PMID:25237204 PMID:25524009 PMID:25605273 PMID:25741868 PMID:25741915 PMID:28492532 PMID:28778864 PMID:29225085 PMID:29921932 PMID:30697212 PMID:30941118 PMID:31417880 PMID:32506361 PMID:32888943 PMID:34619682 PMID:34975878 PMID:36703223 PMID:9536098
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