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GENE - TERM ANNOTATION REPORT

RGD ID: 2826
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Hprt1
Name: hypoxanthine phosphoribosyltransferase 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)
Hprt1 ISOHPRT1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:11018746 PMID:1301916 PMID:23975452 PMID:24940672 PMID:25420563 PMID:25481104 PMID:25482009 PMID:28492532 PMID:9003484
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