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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:9005497
Term: Lesch-Nyhan Syndrome, Neurologic Variant
Definition: null
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)13463104RGDDNA,mRNA:missense mutations,decreased expression:cds: 
Hprt1 ISOHPRT1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Lesch-nyhan syndrome, neurologic variantPMID:10737990 PMID:1301916 PMID:17454734 PMID:20981450 PMID:22157001 PMID:22999896 PMID:2358296 PMID:25481104 PMID:25741868 PMID:28492532
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