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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking COL6A3 and muscular dystrophy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Pan TC, etal., Hum Mol Genet. 1998 May;7(5):807-12.
  • 2 additional annotations were made from Pan TC, etal., Hum Mol Genet. 1998 May;7(5):807-12.
  • 297 RGD objects have been annotated to muscular dystrophy  (DOID:9884)
  • 8 papers in RGD have been used to annotate COL6A3
  • Qualifier: susceptibility
  • Curation Notes: Bethlem myopathy, OMIM:158810;DNA:missense mutation

  • This annotation was curated on 2018-05-19 09:00:30.0 by RGD . For more information contact us

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