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GENE - TERM ANNOTATION REPORT

RGD ID: 2073
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Agxt
Name: alanine--glyoxylate and serine--pyruvate aminotransferase
Acc ID: DOID:2977
Term: primary hyperoxaluria
Definition: A genetic disorder characterized by excretion of large amounts of OXALATES in urine; NEPHROLITHIASIS; NEPHROCALCINOSIS; early onset of RENAL FAILURE; and often a generalized deposit of CALCIUM OXALATE. There are subtypes classified by the enzyme defects in glyoxylate metabolism.
Definition Source(s): MESH:D006960
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:7363368554872ClinVarClinVar Annotator: match by term: Primary hyperoxaluria

 
 ISORGD:7363368554872ClinVarClinVar Annotator: match by term: Primary hyperoxaluria

PMID:10453743, PMID:10960483, PMID:15327387, PMID:15464418, PMID:15802217, PMID:1703535, PMID:17110443, PMID:17495019, PMID:19479957, PMID:1961759, PMID:20016466, PMID:20301460, PMID:20713123, PMID:22529745, PMID:24988064, PMID:24990153, PMID:25644115, PMID:25741868, PMID:27915025
 ISORGD:7363368554872ClinVarClinVar Annotator: match by term: Primary hyperoxaluria

PMID:10453743, PMID:15327387, PMID:17495019, PMID:25741868, PMID:28619084
 ISORGD:7363368554872ClinVarClinVar Annotator: match by term: Primary hyperoxaluria

PMID:10960483, PMID:12777626, PMID:15327387, PMID:17460142, PMID:23229545, PMID:28893421, PMID:9192270
 ISORGD:7363368554872ClinVarClinVar Annotator: match by term: Primary hyperoxaluria

PMID:10960483, PMID:12777626, PMID:15464418, PMID:1703535, PMID:17110443, PMID:19479957, PMID:1961759, PMID:23229545, PMID:25741868
 ISORGD:7363368554872ClinVarClinVar Annotator: match by term: Primary hyperoxaluria

PMID:10960483, PMID:1349575, PMID:15464418, PMID:15802217, PMID:1703535, PMID:25741868
 ISORGD:7363368554872ClinVarClinVar Annotator: match by term: Primary hyperoxaluria

PMID:15365967, PMID:24934730, PMID:26252291, PMID:28202121
 ISORGD:7363368554872ClinVarClinVar Annotator: match by term: Primary hyperoxaluria

PMID:15963748
 ISORGD:7363368554872ClinVarClinVar Annotator: match by term: Primary hyperoxaluria

PMID:17460142, PMID:19155213, PMID:22844106, PMID:23229545, PMID:24988064, PMID:25741868, PMID:8101040, PMID:9136629
 ISORGD:7363368554872ClinVarClinVar Annotator: match by term: Primary hyperoxaluria

PMID:17460142, PMID:25741868
 ISORGD:7363368554872ClinVarClinVar Annotator: match by term: Primary hyperoxaluria

PMID:19479957
 ISORGD:7363368554872ClinVarClinVar Annotator: match by term: Primary hyperoxaluria

PMID:19479957, PMID:25741868
 ISORGD:7363368554872ClinVarClinVar Annotator: match by term: Primary hyperoxaluria

PMID:24988064, PMID:25644115
 ISORGD:7363368554872ClinVarClinVar Annotator: match by term: Primary hyperoxaluria

PMID:25741868
 ISORGD:7363368554872ClinVarClinVar Annotator: match by term: Primary hyperoxaluria

PMID:25741868, PMID:29590070
 ISORGD:7363368554872ClinVarClinVar Annotator: match by term: Primary hyperoxaluria

PMID:25741868, PMID:7967498
 ISORGD:7363368554872ClinVarClinVar Annotator: match by term: Primary hyperoxaluria

PMID:9192270
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.