GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking EGLN1 and Abnormal erythrocyte morphology in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
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  • The annotation was made from Albiero E, etal., Haematologica. 2012 Jan;97(1):123-7. doi: 10.3324/haematol.2010.039545. Epub 2011 Aug 9.
  • 3 additional annotations were made from Albiero E, etal., Haematologica. 2012 Jan;97(1):123-7. doi: 10.3324/haematol.2010.039545. Epub 2011 Aug 9.
  • 515 CRRD objects have been annotated to Abnormal erythrocyte morphology  (HP:0001877)
  • 23 papers in CRRD have been used to annotate EGLN1
  • Curation Notes: DNA:missense mutations: :p.N203K, p.K291L, p.K423E

  • This annotation was curated on 2018-02-03 09:00:22.0 by CRRD . For more information contact us

    An association has been curated linking EGLN1 and Abnormal erythrocyte morphology in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Ladroue C, etal., Haematologica. 2012 Jan;97(1):9-14. doi: 10.3324/haematol.2011.044644. Epub 2011 Sep 20.
  • 3 additional annotations were made from Ladroue C, etal., Haematologica. 2012 Jan;97(1):9-14. doi: 10.3324/haematol.2011.044644. Epub 2011 Sep 20.
  • 515 CRRD objects have been annotated to Abnormal erythrocyte morphology  (HP:0001877)
  • 23 papers in CRRD have been used to annotate EGLN1
  • Curation Notes: DNA:missense mutations, nonsense mutation: :multiple

  • This annotation was curated on 2018-02-03 09:00:22.0 by CRRD . For more information contact us

    An association has been curated linking EGLN1 and Abnormal erythrocyte morphology in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Percy MJ, etal., Proc Natl Acad Sci U S A. 2006 Jan 17;103(3):654-9. Epub 2006 Jan 9.
  • 3 additional annotations were made from Percy MJ, etal., Proc Natl Acad Sci U S A. 2006 Jan 17;103(3):654-9. Epub 2006 Jan 9.
  • 515 CRRD objects have been annotated to Abnormal erythrocyte morphology  (HP:0001877)
  • 23 papers in CRRD have been used to annotate EGLN1
  • Curation Notes: DNA:missense mutation: :p.P317R (950C>G)

  • This annotation was curated on 2018-02-03 09:00:22.0 by CRRD . For more information contact us

    An association has been curated linking EGLN1 and Abnormal erythrocyte morphology in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Bento C, etal., Eur J Haematol. 2013 Oct;91(4):361-8. doi: 10.1111/ejh.12170. Epub 2013 Aug 20.
  • 3 additional annotations were made from Bento C, etal., Eur J Haematol. 2013 Oct;91(4):361-8. doi: 10.1111/ejh.12170. Epub 2013 Aug 20.
  • 515 CRRD objects have been annotated to Abnormal erythrocyte morphology  (HP:0001877)
  • 23 papers in CRRD have been used to annotate EGLN1
  • Curation Notes: DNA:missense mutation:exon:p.W334R (c.1000 T>C)

  • This annotation was curated on 2018-02-03 09:00:22.0 by CRRD . 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.