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GENE - TERM ANNOTATION REPORT

RGD ID: 621881
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Idh3b
Name: isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta
Acc ID: DOID:0110409
Term: retinitis pigmentosa 46
Definition: A retinitis pigmentosa that has_material_basis_in mutation in the IDH3B gene on chromosome 20p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/18806796 "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)
Idh3b ISOIDH3B (Homo sapiens)7240710OMIM  
Idh3b ISOIDH3B (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Idh3b ISOIDH3B (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa 46PMID:18806796 PMID:25741868 PMID:28492532 PMID:31736247
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