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GENE - TERM ANNOTATION REPORT

RGD ID: 1586037
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Acsf3
Name: acyl-CoA synthetase family member 3
Acc ID: DOID:14749
Term: methylmalonic acidemia
Definition: An organic acidemia that involves an accumulation of methylmalonic acid in the blood. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/condition/methylmalonic-acidemia "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)
Acsf3 ISOACSF3 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:21841779
Acsf3 ISOACSF3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Methylmalonic acidemiaPMID:21785126 PMID:21841779 PMID:22421630 PMID:25741868 PMID:26827111 PMID:26915364 PMID:28492532 PMID:29144512 PMID:29858964 PMID:30041674 PMID:30740739 PMID:31376476 PMID:31980526 PMID:32944792 PMID:33879512 PMID:34426522 PMID:34440436 PMID:34900860 PMID:9030548
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