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GENE - TERM ANNOTATION REPORT

RGD ID: 1313702
Species: Mus musculus
RGD Object: Gene
Symbol: Col6a2
Name: collagen, type VI, alpha 2
Acc ID: DOID:0050663
Term: Bethlem myopathy
Definition: A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene. (DO)
Definition Source(s): https://rarediseases.info.nih.gov/diseases/873/bethlem-myopathy "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)
Col6a2 ISOCOL6A2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bethlem myopathy | ClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:12840783 PMID:15689448 PMID:16130093 PMID:16199547 PMID:16935502 PMID:17576681 PMID:17886299 PMID:18160674 PMID:18366090 PMID:18378883 PMID:18414213 PMID:18825676 PMID:18852439 PMID:19309692 PMID:19344236 PMID:19564581 PMID:19884007 PMID:19949035 PMID:20301676 PMID:20576434 PMID:20729548 PMID:20976770 PMID:20981092 PMID:21280092 PMID:22992134 PMID:23040494 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24314752 PMID:24801232 PMID:25533456 PMID:25535305 PMID:25635128 PMID:25741868 PMID:26467025 PMID:26752647 PMID:27159402 PMID:27447704 PMID:27456059 PMID:27782108 PMID:27854218 PMID:28492532 PMID:28660205 PMID:29172004 PMID:29406609 PMID:29419890 PMID:30467950 PMID:30564623 PMID:31066050 PMID:31069529 PMID:31127727 PMID:32528171 PMID:34167565 PMID:4793163 PMID:7695699 PMID:8218237 PMID:9536098
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