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GENE - TERM ANNOTATION REPORT

RGD ID: 1563359
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Invs
Name: inversin
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)
Invs ISOINVS (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: juvenile nephronophthisisPMID:12872123 PMID:17855640 PMID:18076122 PMID:19177160 PMID:20798123 PMID:21866095 PMID:23559409 PMID:24033266 PMID:25525159 PMID:25741868 PMID:28492532 PMID:33532864
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