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GENE - TERM ANNOTATION REPORT

RGD ID: 1346332
Species: Homo sapiens
RGD Object: Gene
Symbol: VARS2
Name: valyl-tRNA synthetase 2, mitochondrial
Acc ID: DOID:0111478
Term: combined oxidative phosphorylation deficiency 20
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the VARS2 gene on chromosome 6p21.33. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/25058219 "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)
VARS2 IAGP 7240710OMIM  
VARS2 EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
VARS2 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 20 | ClinVar Annotator: match by term: VARS2-related condition | ClinVar Annotator: match by term: VARS2-related disordersPMID:25741868
VARS2 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 20 | ClinVar Annotator: match by term: VARS2-related conditionPMID:25741868 PMID:28492532
VARS2 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 20 
VARS2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 20PMID:28492532
VARS2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 20PMID:27502409
VARS2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: VARS2-related conditionPMID:25741868 PMID:28492532 PMID:29314548 PMID:33937156 PMID:34216551
VARS2 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 20PMID:25741868 PMID:29314548
VARS2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 20PMID:24827421 PMID:25741868 PMID:29314548 PMID:31623496
VARS2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 20PMID:28492532 PMID:29313548 PMID:29314548
VARS2 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 20PMID:29314548
VARS2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 20PMID:16199547 PMID:25741868 PMID:28492532 PMID:29313548 PMID:29314548
VARS2 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 20PMID:25058219
VARS2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 20PMID:12345 PMID:24639874 PMID:24827421 PMID:25741868 PMID:27290639 PMID:27502409 PMID:28492532 PMID:29314548 PMID:29478218 PMID:30458719 PMID:30925032 PMID:31064326 PMID:31623496 PMID:34362006
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