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GENE - TERM ANNOTATION REPORT

RGD ID: 11796314
Species: Pan paniscus
RGD Object: Gene
Symbol: MKKS
Name: MKKS centrosomal shuttling protein
Acc ID: DOID:0111112
Term: nephronophthisis 1
Definition: A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/9326933 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/9361039 "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)
MKKS ISOMKKS (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: juvenile nephronophthisisPMID:10802661 PMID:10973251 PMID:11567139 PMID:18094050 PMID:20177705 PMID:20226561 PMID:20498079 PMID:21209035 PMID:25741868 PMID:25982971 PMID:28492532
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