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GENE - TERM ANNOTATION REPORT

RGD ID: 628704
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Il12b
Name: interleukin 12B
Acc ID: DOID:0111950
Term: immunodeficiency 29
Definition: A primary immunodeficiency disease characterized by undetectable IL12B secretion by leukocytes and increased susceptibility to intracellular bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IL12B gene on chromosome 5q33.3. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/19084105/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/9854038/ "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)
Il12b ISOIL12B (Homo sapiens)7240710OMIM  
Il12b ISOIL12B (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Il12b ISOIL12B (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiencyPMID:11704807 PMID:11753820 PMID:16199547 PMID:17236132 PMID:17576681 PMID:18449199 PMID:22739501 PMID:23429356 PMID:23575353 PMID:24127073 PMID:25741868 PMID:25741905 PMID:28492532 PMID:9536098 PMID:9854038
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