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GENE - TERM ANNOTATION REPORT

RGD ID: 735504
Species: Homo sapiens
RGD Object: Gene
Symbol: C3
Name: complement C3
Acc ID: DOID:0111128
Term: focal segmental glomerulosclerosis 1
Definition: A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ACTN4 gene on chromosome 19q13.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/1429048 "DO" "DO"
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 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Focal sclerosis with hyalinosisPMID:17634448 PMID:18325906 PMID:19168221 PMID:1976733 PMID:25741868 PMID:28492532
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