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GENE - TERM ANNOTATION REPORT

RGD ID: 12444994
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Pax2
Name: paired box 2
Acc ID: DOID:1312
Term: focal segmental glomerulosclerosis
Definition: A clinicopathological syndrome or diagnostic term for a type of glomerular injury that has multiple causes, primary or secondary. Clinical features include PROTEINURIA, reduced GLOMERULAR FILTRATION RATE, and EDEMA. Kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual KIDNEY FAILURE.
Definition Source(s): MESH:D005923
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)
Pax2 ISOPAX2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focalPMID:11093271 PMID:11241473 PMID:11461952 PMID:22213154 PMID:22350371 PMID:24429398 PMID:24676634 PMID:25741868 PMID:27226968 PMID:28492532 PMID:31001663 PMID:32203253 PMID:33532864 PMID:3377002 PMID:34696790 PMID:35444690 PMID:8589702 PMID:9106533
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