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GENE - TERM ANNOTATION REPORT

RGD ID: 1306897
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Nek8
Name: NIMA-related kinase 8
Acc ID: DOID:0111120
Term: nephronophthisis 9
Definition: A nephronophthisis that has_material_basis_in homozygous mutation in the NEK8 gene on chromosome 17q11. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/18199800 "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)
Nek8 IAGP 40924667RGDcompared to control Lewis 
Nek8 ISONEK8 (Homo sapiens)7240710OMIM  
Nek8 ISONEK8 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Nek8 ISONEK8 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nephronophthisis 9PMID:16199547 PMID:17576681 PMID:18199800 PMID:22106379 PMID:23026745 PMID:23418306 PMID:25741868 PMID:26697755 PMID:26967905 PMID:28492532 PMID:9536098
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