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GENE - TERM ANNOTATION REPORT

RGD ID: 1551852
Species: Mus musculus
RGD Object: Gene
Symbol: Crb2
Name: crumbs family member 2
Acc ID: DOID:0080379
Term: nephrotic syndrome type 2
Definition: A familial nephrotic syndrome characterized by steroid resistance and childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS2 gene encoding podocin on chromosome 1q25-q31. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10742096 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/8606597 "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)
Crb2 ISOCRB2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Steroid-resistant nephrotic syndromePMID:25557779 PMID:25741868 PMID:27004616 PMID:27942854 PMID:28492532 PMID:30212996 PMID:32581362
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