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GENE - TERM ANNOTATION REPORT

RGD ID: 12586639
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Idh3a
Name: isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha
Acc ID: DOID:0112147
Term: retinitis pigmentosa 90
Definition: A retinitis pigmentosa characterized by onset in the first decade of life of night blindness that has_material_basis_in homozygous or compound heterozygous mutation in the IDH3A gene on chromosome 15q25.1. (DO)
Definition Source(s): PMID:28412069 "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)
Idh3a ISOIDH3A (Homo sapiens)7240710OMIM  
Idh3a ISOIDH3A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: IDH3A-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 90PMID:25741868 PMID:28058510 PMID:28412069 PMID:28492532 PMID:30058936 PMID:31012789 PMID:31456290 PMID:34906470
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