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VARIANT - TERM ANNOTATION REPORT

RGD ID: 405044340
Species: Homo sapiens
RGD Object: Variant
Symbol: CV2971059
Name: NM_000016.6(ACADM):c.469-2A>G
Acc ID: DOID:0080153
Term: medium chain acyl-CoA dehydrogenase deficiency
Definition: A lipid metabolism disorder that is characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase that results in the inability to convert medium chain fatty acids to energy, particularly during fasting. (DO)
Definition Source(s): http://rarediseases.org/rare-diseases/medium-chain-acyl-coa-dehydrogenase-deficiency/ "DO" "DO", https://ghr.nlm.nih.gov/condition/medium-chain-acyl-coa-dehydrogenase-deficiency "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)
CV2971059 IAGP 8554872ClinVarClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiencyPMID:16121256 PMID:16199547 PMID:20434380 PMID:28492532
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