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GENE - TERM ANNOTATION REPORT

RGD ID: 12673567
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Col6a2
Name: collagen type VI alpha 2 chain
Acc ID: DOID:9006719
Term: Bethlem Myopathy 1B
Definition: A congenital muscular dystrophy characterized by distal joint laxity and a combination of distal and proximal joint contractures. Caused by heterozygous mutation in the COL6A2 gene on chromosome 21q22.
Definition Source(s): OMIM:620725
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)
Col6a2 ISOCOL6A2 (Homo sapiens)7240710OMIM  
Col6a2 ISOCOL6A2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bethlem myopathy 1BPMID:15689448 PMID:16199547 PMID:17886299 PMID:18366090 PMID:19344236 PMID:20729548 PMID:20976770 PMID:20981092 PMID:21280092 PMID:24038877 PMID:25741868 PMID:28492532 PMID:30467950 PMID:30564623 PMID:7695699 PMID:8218237 PMID:8782832
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