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GENE - TERM ANNOTATION REPORT

RGD ID: 12301290
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: TRIT1
Name: tRNA isopentenyltransferase 1
Acc ID: DOID:0111464
Term: combined oxidative phosphorylation deficiency 35
Definition: A combined oxidative phosphorylation deficiency characterized by global developmental delay with intellectual disability, microcephaly, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the TRIT1 gene on chromosome 1p34.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/24901367 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/28185376 "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)
TRIT1 ISOTRIT1 (Homo sapiens)7240710OMIM  
TRIT1 ISOTRIT1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 35 | ClinVar Annotator: match by term: TRIT1 DeficiencyPMID:24901367 PMID:25741868 PMID:25954003 PMID:26381753 PMID:27618451 PMID:28185376 PMID:28490743 PMID:28492532 PMID:30977854 PMID:31140736 PMID:32088416 PMID:32324744 PMID:34052969 PMID:36047296
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