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GENE - TERM ANNOTATION REPORT

RGD ID: 628645
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Brs3
Name: bombesin receptor subtype 3
Acc ID: DOID:6620
Term: X-linked hyper IgM syndrome
Definition: A hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has_material_basis_in a mutation in the CD40LG gene on chromosome Xq26.3. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/x-linked-hyper-igm-syndrome "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)
Brs3 ISOBRS3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hyper-IgM syndrome type 1PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532
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