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GENE - TERM ANNOTATION REPORT

RGD ID: 1308704
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Col6a3
Name: collagen type VI alpha 3 chain
Acc ID: DOID:630
Term: genetic disease
Definition: A disease that has_material_basis_in genetic variations in the human genome. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/ "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: Inborn genetic diseasesPMID:15689448 PMID:16199547 PMID:18366090 PMID:19344236 PMID:20976770 PMID:21280092 PMID:24038877 PMID:25741868 PMID:26467025 PMID:27854213 PMID:28492532 PMID:28688748 PMID:34418069 PMID:7695699 PMID:8218237 PMID:9724608
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