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GENE - TERM ANNOTATION REPORT

RGD ID: 12638954
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Prps1
Name: phosphoribosyl pyrophosphate synthetase 1
Acc ID: DOID:630
Term: genetic disease
Definition: A disease that has_material_basis_in genetic variations in the human genome. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/ "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)
Prps1 ISOPRPS1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:1664177 PMID:19161981 PMID:24033266 PMID:25741868 PMID:26089585 PMID:26467025 PMID:28492532 PMID:6243137 PMID:8253776
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