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GENE - TERM ANNOTATION REPORT

RGD ID: 12726320
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: C3
Name: complement C3
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)
C3 ISOC3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Focal segmental glomerulosclerosisPMID:16687714 PMID:17634448 PMID:17767156 PMID:18325906 PMID:19168221 PMID:19259132 PMID:1976733 PMID:20664795 PMID:21576320 PMID:22718507 PMID:23112567 PMID:23455636 PMID:25741868 PMID:28492532 PMID:7870343
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