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GENE - TERM ANNOTATION REPORT

RGD ID: 1311942
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Nup85
Name: nucleoporin 85
Acc ID: DOID:0080392
Term: nephrotic syndrome type 17
Definition: A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP85 gene on chromosome 17q25. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/30179222 "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)
Nup85 ISONUP85 (Homo sapiens)7240710OMIM  
Nup85 ISONUP85 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome, type 17PMID:25741868 PMID:28492532 PMID:30179222
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