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GENE - TERM ANNOTATION REPORT

9 Annotations Found.

An association has been curated linking MYOC and Optic neuropathy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Kuchtey J, etal., Eur J Med Genet. 2013 Jun;56(6):292-6. doi: 10.1016/j.ejmg.2013.03.002. Epub 2013 Mar 19.
  • 5 additional annotations were made from Kuchtey J, etal., Eur J Med Genet. 2013 Jun;56(6):292-6. doi: 10.1016/j.ejmg.2013.03.002. Epub 2013 Mar 19.
  • 69 RGD objects have been annotated to Optic neuropathy  (HP:0001138)
  • 45 papers in RGD have been used to annotate MYOC
  • Curation Notes: DNA:snp:cds:p.V251A


    • An association has been curated linking MYOC and Optic neuropathy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Wiggs JL, etal., Am J Hum Genet. 1998 Nov;63(5):1549-52.
  • 5 additional annotations were made from Wiggs JL, etal., Am J Hum Genet. 1998 Nov;63(5):1549-52.
  • 69 RGD objects have been annotated to Optic neuropathy  (HP:0001138)
  • 45 papers in RGD have been used to annotate MYOC
  • Curation Notes: DNA:snps:cds:p.P370L, p.Y437H


    • An association has been curated linking MYOC and Optic neuropathy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Alward WL, etal., N Engl J Med. 1998 Apr 9;338(15):1022-7.
  • 5 additional annotations were made from Alward WL, etal., N Engl J Med. 1998 Apr 9;338(15):1022-7.
  • 69 RGD objects have been annotated to Optic neuropathy  (HP:0001138)
  • 45 papers in RGD have been used to annotate MYOC
  • Curation Notes: DNA:snps:cds:multiple


    • An association has been curated linking MYOC and Optic neuropathy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Bruttini M, etal., Arch Ophthalmol. 2003 Jul;121(7):1034-8.
  • 5 additional annotations were made from Bruttini M, etal., Arch Ophthalmol. 2003 Jul;121(7):1034-8.
  • 69 RGD objects have been annotated to Optic neuropathy  (HP:0001138)
  • 45 papers in RGD have been used to annotate MYOC
  • Curation Notes: DNA:missense mutation:cds:p.K423E


    • An association has been curated linking MYOC and Optic neuropathy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Petersen MB, etal., Invest Ophthalmol Vis Sci. 2006 Feb;47(2):620-5.
  • 5 additional annotations were made from Petersen MB, etal., Invest Ophthalmol Vis Sci. 2006 Feb;47(2):620-5.
  • 69 RGD objects have been annotated to Optic neuropathy  (HP:0001138)
  • 45 papers in RGD have been used to annotate MYOC
  • Qualifier: severity
  • Curation Notes: DNA:snp:cds:pT377M


    • An association has been curated linking MYOC and Optic neuropathy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Liu W, etal., Mol Vis. 2012;18:2241-6. Epub 2012 Aug 10.
  • 5 additional annotations were made from Liu W, etal., Mol Vis. 2012;18:2241-6. Epub 2012 Aug 10.
  • 69 RGD objects have been annotated to Optic neuropathy  (HP:0001138)
  • 45 papers in RGD have been used to annotate MYOC
  • Curation Notes: DNA:snps:cds:p.T209N, p.L215Q


    • An association has been curated linking MYOC and Optic neuropathy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Qu X, etal., Mol Biol Rep. 2010 Jan;37(1):255-61. doi: 10.1007/s11033-009-9667-3. Epub 2009 Aug 18.
  • 5 additional annotations were made from Qu X, etal., Mol Biol Rep. 2010 Jan;37(1):255-61. doi: 10.1007/s11033-009-9667-3. Epub 2009 Aug 18.
  • 69 RGD objects have been annotated to Optic neuropathy  (HP:0001138)
  • 45 papers in RGD have been used to annotate MYOC
  • Curation Notes: DNA:silent mutation, deletion:cds:p.F336F, c.1084delG


    • An association has been curated linking MYOC and Optic neuropathy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Fan BJ, etal., Arch Ophthalmol. 2006 Jan;124(1):102-6.
  • 5 additional annotations were made from Fan BJ, etal., Arch Ophthalmol. 2006 Jan;124(1):102-6.
  • 69 RGD objects have been annotated to Optic neuropathy  (HP:0001138)
  • 45 papers in RGD have been used to annotate MYOC
  • Curation Notes: DNA:snp:cds:pC245Y


    • An association has been curated linking MYOC and Optic neuropathy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 69 RGD objects have been annotated to Optic neuropathy  (HP:0001138)
  • 45 papers in RGD have been used to annotate MYOC
  • Original References(s): ORPHA:98977


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