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GENE - TERM ANNOTATION REPORT

RGD ID: 1319271
Species: Homo sapiens
RGD Object: Gene
Symbol: CSF3R
Name: colony stimulating factor 3 receptor
Acc ID: DOID:612
Term: primary immunodeficiency disease
Definition: An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation. (DO)
Definition Source(s): http://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm#PrimaryImmunoDiseases "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)
CSF3R IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inherited Immunodeficiency DiseasesPMID:24753537 PMID:25741868 PMID:26324699 PMID:28492532 PMID:31345219 PMID:31589614 PMID:32499645 PMID:32888494 PMID:32966608 PMID:33108454 PMID:33510405 PMID:34778134 PMID:35178734
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