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GENE - TERM ANNOTATION REPORT

RGD ID: 18795260
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: COL6A3
Name: collagen type VI alpha 3 chain
Acc ID: DOID:0111351
Term: D-2-hydroxyglutaric aciduria 1
Definition: A D-2-hydroxyglutaric aciduria that has_material_basis_in homozygous or compound heterozygous mutation in D2HGDH on 2q37.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15609246 "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)
COL6A3 ISOCOL6A3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895
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