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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking COL6A2 and Bethlem Myopathy 1 in Pan paniscus.        

  • 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to Bethlem Myopathy 1  (DOID:9001550)
  • 0 papers in RGD have been used to annotate COL6A2


  • An association has been curated linking COL6A2 and Bethlem Myopathy 1 in Pan paniscus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Automated assignment of GO, PW and RDO ISS annotations to Chinchilla, Squirrel, Bonobo and/or Dog genes from Human gene annotations
  • The annotation has been inferred from sequence orthology with COL6A2 (Homo sapiens)
  • 7 RGD objects have been annotated to Bethlem Myopathy 1  (DOID:9001550)
  • 0 papers in RGD have been used to annotate COL6A2
  • Qualifier: susceptibility
  • Curation Notes: Bethlem myopathy, OMIM:158810, DNA:mutation:cds:898G>A, p.G250S(human)
  • Original References(s): PMID:8782832 REF_RGD_ID:1600934


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