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GENE - TERM ANNOTATION REPORT

RGD ID: 8927178
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Lias
Name: lipoic acid synthetase
Acc ID: DOID:9000776
Term: Hyperglycinemia, Lactic Acidosis, and Seizures
Definition: null
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)
Lias ISOLIAS (Homo sapiens)7240710OMIM  
Lias ISOLIAS (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiencyPMID:16199547 PMID:17576681 PMID:2152680 PMID:22152680 PMID:24334290 PMID:25741868 PMID:26108146 PMID:26467025 PMID:26934580 PMID:27923773 PMID:28492532 PMID:28817111 PMID:36680912 PMID:9536098
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