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GENE - TERM ANNOTATION REPORT

RGD ID: 1303040
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ahi1
Name: Abelson helper integration site 1
Acc ID: DOID:12712
Term: nephronophthisis
Definition: A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). (DO)
Definition Source(s): http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2770134/ "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)
Ahi1 ISOAHI1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: NephronophthisisPMID:15322546 PMID:16155189 PMID:16453322 PMID:25741868 PMID:26092869 PMID:28442542 PMID:28492532 PMID:29186038
Ahi1 ISSAhi1 (Mus musculus)13592920MouseDO  
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