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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Efemp2 and arterial tortuosity syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
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  • The annotation was made from Kappanayil M, etal., Orphanet J Rare Dis. 2012 Sep 3;7:61. doi: 10.1186/1750-1172-7-61.
  • The annotation has been inferred from sequence orthology with EFEMP2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Kappanayil M, etal., Orphanet J Rare Dis. 2012 Sep 3;7:61. doi: 10.1186/1750-1172-7-61.
  • 6 RGD objects have been annotated to arterial tortuosity syndrome  (DOID:0050645)
  • 15 papers in RGD have been used to annotate Efemp2
  • Curation Notes: DNA:missense mutation:CDS:p.D203A (human)


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