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GENE - TERM ANNOTATION REPORT

RGD ID: 1359208
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Dmac2l
Name: distal membrane arm assembly component 2 like
Acc ID: DOID:0050574
Term: L-2-hydroxyglutaric aciduria
Definition: An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia). (DO)
Definition Source(s): http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria "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)
Dmac2l ISODMAC2L (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria | ClinVar Annotator: match by term: L2HGDH-related conditionPMID:17576681 PMID:18414213 PMID:25741868 PMID:25741905 PMID:26467025 PMID:28492532 PMID:9536098
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