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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Col6a1 and Bethlem myopathy in Chinchilla lanigera.        

  • 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 COL6A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 58 RGD objects have been annotated to Bethlem myopathy  (DOID:0050663)
  • 2 papers in RGD have been used to annotate Col6a1
  • Curation Notes: ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures
  • Original References(s): PMID:10419498 PMID:11707460 PMID:12840783 PMID:15689448 PMID:15955946 PMID:16088929 PMID:16130093 PMID:16199547 PMID:17015493 PMID:17576681 PMID:17785673 PMID:17785674 PMID:17886299 PMID:18366090 PMID:18414213 PMID:18642359 PMID:18825676 PMID:19204719 PMID:19344236 PMID:19564581 PMID:20301676 PMID:20302629 PMID:20882040 PMID:20976770 PMID:20981092 PMID:21280092 PMID:22075033 PMID:22789865 PMID:22975586 PMID:23040494 PMID:23572247 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24223098 PMID:24271325 PMID:24801232 PMID:24959844 PMID:25741868 PMID:25749816 PMID:26467025 PMID:26867126 PMID:27363342 PMID:27708273 PMID:27854213 PMID:27884173 PMID:28182637 PMID:28492532 PMID:29419890 PMID:30564623 PMID:32154989 PMID:34008892 PMID:34167565 PMID:7551830 PMID:7695699 PMID:8218237 PMID:8730294 PMID:9536098 PMID:9724608


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