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GENE - TERM ANNOTATION REPORT

RGD ID: 3864
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Timm44
Name: translocase of inner mitochondrial membrane 44
Acc ID: DOID:0110925
Term: familial hemophagocytic lymphohistiocytosis 5
Definition: A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the STXBP2 gene on chromosome 19p13.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/19804848 "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)
Timm44 ISOTIMM44 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5PMID:28492532
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