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GENE - TERM ANNOTATION REPORT

RGD ID: 3334
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Anks6
Name: ankyrin repeat and sterile alpha motif domain containing 6
Acc ID: DOID:0111124
Term: nephronophthisis 16
Definition: A nephronophthisis that has_material_basis_in homozygous mutation in the ANKS6 gene on chromosome 9q22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/23793029 "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)
Anks6 ISOANKS6 (Homo sapiens)7240710OMIM  
Anks6 ISOANKS6 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Anks6 ISOANKS6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nephronophthisis 16PMID:17576681 PMID:23793029 PMID:24610927 PMID:25599650 PMID:25741868 PMID:28492532 PMID:9536098
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