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GENE - TERM ANNOTATION REPORT

RGD ID: 621167
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Dars1
Name: aspartyl-tRNA synthetase 1
Acc ID: DOID:0060591
Term: WHIM syndrome 1
Definition: An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/WHIM_syndrome "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/10767001 "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)
Dars1 ISODARS1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexisPMID:28492532
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