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GENE - TERM ANNOTATION REPORT

RGD ID: 2318759
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ift140
Name: intraflagellar transport 140
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)
Ift140 ISOIFT140 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal dominant polycystic kidney diseasePMID:16199547 PMID:22282595 PMID:22503633 PMID:23418020 PMID:24009529 PMID:25741868 PMID:26216056 PMID:26968735 PMID:28492532 PMID:31589614 PMID:31964843 PMID:31980526 PMID:32037395 PMID:34890546 PMID:35649421
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