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GENE - TERM ANNOTATION REPORT

43 Annotations Found.

An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:25741868, PMID:28492532


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:28492532


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:18414213, PMID:25741868, PMID:26467025, PMID:28492532


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:23757202, PMID:25741868


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:25741868


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:26467025, PMID:28492532


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:18414213, PMID:25741868


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:18414213, PMID:25741868, PMID:28492532


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by OMIM:616411
  • Original References(s): PMID:26004199


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:26004199, PMID:28492532, PMID:30564623


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:20976770, PMID:26247046, PMID:28492532, PMID:28688748, PMID:29970176, PMID:30487145, PMID:30564623


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:28492532, PMID:30564623


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:25741868, PMID:26467025, PMID:28492532


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:26004199, PMID:28492532, PMID:29970176


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:25741868, PMID:26467025


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:18414213, PMID:25741868, PMID:26467025


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:17886299, PMID:25741868, PMID:26467025, PMID:28492532


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:15563506, PMID:15689448, PMID:17886299, PMID:25741868, PMID:26467025, PMID:28492532


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:24033266, PMID:25741868, PMID:28492532


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:15689448, PMID:25741868, PMID:28492532


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Dystonia 27
  • Original References(s): PMID:26004199, PMID:28492532


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:15563506, PMID:15689448, PMID:16935502, PMID:17785673, PMID:25741868, PMID:26467025, PMID:28492532


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Dystonia 27
  • Original References(s): PMID:26004199, PMID:28492532, PMID:30311386


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:15563506, PMID:15689448, PMID:17785673, PMID:18414213, PMID:25741868, PMID:26467025, PMID:28492532


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:15563506, PMID:15689448, PMID:16935502, PMID:25741868, PMID:26467025, PMID:28492532


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:27854218, PMID:28492532


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Dystonia 27
  • Original References(s): PMID:26004199, PMID:26872670, PMID:28492532


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:25224718, PMID:26004199, PMID:28492532


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:18825676, PMID:25741868, PMID:28492532


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:25741868, PMID:28492532, PMID:30564623


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:15689448, PMID:23040494, PMID:25741868, PMID:28492532


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:17785673, PMID:28492532


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:18825676, PMID:28492532


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:15689448, PMID:18378883, PMID:25741868, PMID:28492532


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:26467025, PMID:28492532, PMID:30564623


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:26872670, PMID:28492532


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:26284228, PMID:28492532


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:23040494, PMID:25214167, PMID:28492532


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:24038877, PMID:28492532


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:15689448, PMID:16935502, PMID:20981092, PMID:22995991, PMID:26467025, PMID:28492532


  • An association has been curated linking Col6a3 and dystonia 27 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL6A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 CRRD objects have been annotated to dystonia 27  (DOID:0090050)
  • 11 papers in CRRD have been used to annotate Col6a3
  • Curation Notes: ClinVar Annotator: match by term: Collagen VI-related myopathy
  • Original References(s): PMID:25741868, PMID:27854218, PMID:28492532


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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.