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GENE - TERM ANNOTATION REPORT

RGD ID: 2067
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Agrn
Name: agrin
Acc ID: DOID:0111935
Term: immunodeficiency 16
Definition: A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF4 gene on chromosome 1p36.33. (DO)
Definition Source(s): PMID:20156905 "DO" "DO", PMID:23897980 "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)
Agrn ISOAGRN (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiencyPMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 PMID:9683594
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