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GENE - TERM ANNOTATION REPORT

RGD ID: 1313701
Species: Homo sapiens
RGD Object: Gene
Symbol: COL6A2
Name: collagen type VI alpha 2 chain
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 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:25741868 PMID:28492532
COL6A2 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:28492532
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:16199547 PMID:18366090 PMID:20976770 PMID:21280092 PMID:25741868 PMID:28492532 PMID:29406609
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:25741868 PMID:27854218 PMID:28492532
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:17886299 PMID:25741868 PMID:28492532
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:17886299 PMID:28492532
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:12840783 PMID:15689448 PMID:25741868 PMID:26467025 PMID:28492532
COL6A2 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bethlem myopathy | ClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:25741868
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:19309692 PMID:20576434 PMID:21280092 PMID:24033266 PMID:24314752 PMID:25535305 PMID:25741868 PMID:26467025 PMID:27447704 PMID:28492532
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:26752647 PMID:28492532
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:25741868 PMID:28492532 PMID:31069529
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:25741868 PMID:28492532 PMID:30564623
COL6A2 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:25741868 PMID:28492532 PMID:34167565
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contractures 
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:17576681 PMID:19884007 PMID:20976770 PMID:25741868 PMID:28492532 PMID:9536098
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:17576681 PMID:28492532 PMID:9536098
COL6A2 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:17576681 PMID:25741868 PMID:28492532 PMID:9536098
COL6A2 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:15689448 PMID:19344236 PMID:24038877 PMID:25741868 PMID:28492532 PMID:7695699 PMID:8218237
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:18825676 PMID:28492532
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:17576681 PMID:18160674 PMID:20976770 PMID:27159402 PMID:28492532 PMID:9536098
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:19884007 PMID:25741868 PMID:28492532 PMID:29419890 PMID:30564623 PMID:31127727 PMID:34167565
COL6A2 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:25741868 PMID:26467025 PMID:28492532
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:16199547 PMID:19884007 PMID:20976770 PMID:28492532 PMID:28660205
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:27456059 PMID:28492532
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:23040494 PMID:25741868 PMID:28492532
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:16199547 PMID:18366090 PMID:20976770 PMID:21280092 PMID:28492532
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:25635128 PMID:25741868 PMID:28492532
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:16199547 PMID:18366090 PMID:20976770 PMID:21280092 PMID:25741868 PMID:28492532 PMID:29172004
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:17886299 PMID:20729548 PMID:20981092 PMID:25741868 PMID:28492532 PMID:30467950 PMID:30564623
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:18852439 PMID:19949035 PMID:20301676 PMID:4793163
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:15689448 PMID:16935502 PMID:19564581 PMID:26467025 PMID:28492532
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:19309692 PMID:19884007 PMID:19949035 PMID:20976770 PMID:24801232 PMID:25741868 PMID:28492532 PMID:29419890
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:19949035 PMID:25533456 PMID:25741868 PMID:28492532 PMID:29419890
COL6A2 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:18414213 PMID:25741868 PMID:28492532
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:15689448 PMID:16130093 PMID:25741868 PMID:26467025 PMID:28492532
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:18378883 PMID:24038877 PMID:25741868 PMID:28492532
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:18378883 PMID:24038877 PMID:28492532
COL6A2 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:23757202 PMID:24033266 PMID:25741868 PMID:28492532
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:15689448 PMID:28492532
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:23757202 PMID:25741868 PMID:26467025 PMID:28492532
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:15689448 PMID:19884007 PMID:20729548 PMID:24033266 PMID:25741868 PMID:28492532
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:15689448 PMID:23040494 PMID:25741868 PMID:26467025 PMID:28492532
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:18414213 PMID:22992134 PMID:25741868 PMID:26467025 PMID:28492532
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:15689448 PMID:25741868 PMID:26467025 PMID:27782108 PMID:28492532
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:15689448 PMID:23040494 PMID:25741868 PMID:28492532
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopathy, benign congenital, with contracturesPMID:25741868 PMID:28492532 PMID:31066050 PMID:32528171
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