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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Gjc2 and lymphedema in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Ferrell RE, etal., Am J Hum Genet. 2010 Jun 11;86(6):943-8. doi: 10.1016/j.ajhg.2010.04.010. Epub 2010 May 27.
  • The annotation has been inferred from sequence orthology with GJC2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Ferrell RE, etal., Am J Hum Genet. 2010 Jun 11;86(6):943-8. doi: 10.1016/j.ajhg.2010.04.010. Epub 2010 May 27.
  • 152 RGD objects have been annotated to lymphedema  (DOID:4977)
  • 22 papers in RGD have been used to annotate Gjc2
  • Curation Notes: DNA:missense mutations:cds:multiple (human)


  • An association has been curated linking Gjc2 and lymphedema in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Ostergaard P, etal., J Med Genet. 2011 Apr;48(4):251-5. doi: 10.1136/jmg.2010.085563. Epub 2011 Jan 25.
  • The annotation has been inferred from sequence orthology with GJC2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Ostergaard P, etal., J Med Genet. 2011 Apr;48(4):251-5. doi: 10.1136/jmg.2010.085563. Epub 2011 Jan 25.
  • 152 RGD objects have been annotated to lymphedema  (DOID:4977)
  • 22 papers in RGD have been used to annotate Gjc2
  • Curation Notes: DNA:missense mutations:cds:p.S48L, p.M210R (human)


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