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GENE - TERM ANNOTATION REPORT

RGD ID: 12164984
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: SPP1
Name: secreted phosphoprotein 1
Acc ID: DOID:898
Term: autosomal dominant polycystic kidney disease
Definition: A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Ciliopathy#cite_note-davenport2008-4 "DO" "DO", https://rarediseases.info.nih.gov/diseases/10413/autosomal-dominant-polycystic-kidney-disease "DO" "DO", https://www.genome.gov/Genetic-Disorders/Autosomal-Polycystic-Kidney-Disease "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)
SPP1 ISOSPP1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal dominant polycystic kidney diseasePMID:17582161 PMID:22863349 PMID:25741868 PMID:28492532
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