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GENE - TERM ANNOTATION REPORT

RGD ID: 1303155
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Oxgr1
Name: oxoglutarate receptor 1
Acc ID: DOID:9004712
Term: Calcium Oxalate Nephrolithiasis 2 with Nephrocalcinosis
Definition: An autosomal dominant disorder of renal function characterized by the recurrent formation of CaOx kidney stones. Caused by heterozygous mutation in the OXGR1 gene on chromosome 13q32.
Definition Source(s): OMIM:620374
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)
Oxgr1 ISOOXGR1 (Homo sapiens)7240710OMIM  
Oxgr1 ISOOXGR1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosisPMID:36571463
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