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GENE - TERM ANNOTATION REPORT

RGD ID: 2374
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Col12a1
Name: collagen type XII alpha 1 chain
Acc ID: DOID:9006278
Term: Bethlem Myopathy 2
Definition: null
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)
Col12a1 ISOCOL12A1 (Homo sapiens)7240710OMIM  
Col12a1 ISOCOL12A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bethlem myopathy 2 | ClinVar Annotator: match by term: COL12A1-related conditionPMID:24334604 PMID:24334769 PMID:25741868 PMID:27348394 PMID:28492532 PMID:28973083 PMID:29858556 PMID:35019233
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