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GENE - TERM ANNOTATION REPORT

RGD ID: 708425
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Havcr1
Name: hepatitis A virus cellular receptor 1
Acc ID: DOID:0060707
Term: lymphoproliferative syndrome 1
Definition: A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/19425169 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/21109689 "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)
Havcr1 ISOHAVCR1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Lymphoproliferative syndrome 1PMID:16860760 PMID:22289921 PMID:26056787 PMID:28492532
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