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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:9007626
Term: Myosclerosis, Autosomal Recessive
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)
Col6a2 ISOCOL6A2 (Homo sapiens)7240710OMIM  
Col6a2 ISOCOL6A2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Col6a2 ISOCOL6A2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MYOSCLEROSIS, CONGENITAL, OF LOWENTHAL | ClinVar Annotator: match by term: Myosclerosis | ClinVar Annotator: match by term: Myosclerosis, autosomal recessivePMID:12840783 PMID:15689448 PMID:16130093 PMID:16935502 PMID:17576681 PMID:17886299 PMID:18378883 PMID:18414213 PMID:18852439 PMID:19309692 PMID:19564581 PMID:19949035 PMID:20301676 PMID:20576434 PMID:20729548 PMID:20981092 PMID:21280092 PMID:22992134 PMID:23040494 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24314752 PMID:24801232 PMID:25535305 PMID:25741868 PMID:26467025 PMID:26752647 PMID:27447704 PMID:27456059 PMID:27782108 PMID:27854218 PMID:28492532 PMID:30467950 PMID:30564623 PMID:31069529 PMID:31127727 PMID:34167565 PMID:4793163 PMID:9536098
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