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GENE - TERM ANNOTATION REPORT

RGD ID: 620106
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Nos1ap
Name: nitric oxide synthase 1 adaptor protein
Acc ID: DOID:0112268
Term: nephrotic syndrome type 22
Definition: A familial nephrotic syndrome characterized by onset of progressive kidney dysfunction in infancy, edema, hypoproteinemia, proteinuria, microscopic hematuria, effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane that has_material_basis_in homozygous or compound heterozygous mutation in the NOS1AP gene on chromosome 1q23.3. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/33523862/ "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)
Nos1ap ISONOS1AP (Homo sapiens)7240710OMIM  
Nos1ap ISONOS1AP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome, type 22PMID:25741868 PMID:28492532 PMID:33523862
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