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GENE - TERM ANNOTATION REPORT

24 Annotations Found.

An association has been curated linking MYOC and primary open angle glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Alward WL, etal., Arch Ophthalmol. 2002 Sep;120(9):1189-97.
  • 4 additional annotations were made from Alward WL, etal., Arch Ophthalmol. 2002 Sep;120(9):1189-97.
  • 55 RGD objects have been annotated to primary open angle glaucoma  (DOID:1070)
  • 45 papers in RGD have been used to annotate MYOC
  • Qualifier: no_association
  • Curation Notes: DNA:snp:promoter:g.-1000C>G (human)


    • An association has been curated linking MYOC and primary open angle glaucoma in Homo sapiens.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Zillig M, etal., Invest Ophthalmol Vis Sci. 2005 Jan;46(1):223-34.
  • The annotation has been inferred from sequence orthology with Myoc (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Zillig M, etal., Invest Ophthalmol Vis Sci. 2005 Jan;46(1):223-34.
  • 55 RGD objects have been annotated to primary open angle glaucoma  (DOID:1070)
  • 45 papers in RGD have been used to annotate MYOC
  • Curation Notes: Y437H


    • An association has been curated linking MYOC and primary open angle glaucoma 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.
  • 55 RGD objects have been annotated to primary open angle glaucoma  (DOID:1070)
  • 45 papers in RGD have been used to annotate MYOC
  • Curation Notes: DNA:snps:cds:multiple (human)


    • An association has been curated linking MYOC and primary open angle glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Souzeau E, etal., Ophthalmology. 2013 Jun;120(6):1135-43. doi: 10.1016/j.ophtha.2012.11.029. Epub 2013 Feb 28.
  • 5 additional annotations were made from Souzeau E, etal., Ophthalmology. 2013 Jun;120(6):1135-43. doi: 10.1016/j.ophtha.2012.11.029. Epub 2013 Feb 28.
  • 55 RGD objects have been annotated to primary open angle glaucoma  (DOID:1070)
  • 45 papers in RGD have been used to annotate MYOC
  • Curation Notes: DNA:mutations:multiple (human)


    • An association has been curated linking MYOC and primary open angle glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Colomb E, etal., Clin Genet. 2001 Sep;60(3):220-5.
  • 4 additional annotations were made from Colomb E, etal., Clin Genet. 2001 Sep;60(3):220-5.
  • 55 RGD objects have been annotated to primary open angle glaucoma  (DOID:1070)
  • 45 papers in RGD have been used to annotate MYOC
  • Qualifier: severity
  • Curation Notes: DNA:snp:promoter:g.-1000C>G (human)


    • An association has been curated linking MYOC and primary open angle glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Fingert JH, etal., Hum Mol Genet. 1999 May;8(5):899-905.
  • 2 additional annotations were made from Fingert JH, etal., Hum Mol Genet. 1999 May;8(5):899-905.
  • 55 RGD objects have been annotated to primary open angle glaucoma  (DOID:1070)
  • 45 papers in RGD have been used to annotate MYOC
  • Curation Notes: DNA:mutations:multiple (human)


    • An association has been curated linking MYOC and primary open angle glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Stone EM, etal., Science. 1997 Jan 31;275(5300):668-70.
  • 2 additional annotations were made from Stone EM, etal., Science. 1997 Jan 31;275(5300):668-70.
  • 55 RGD objects have been annotated to primary open angle glaucoma  (DOID:1070)
  • 45 papers in RGD have been used to annotate MYOC
  • Curation Notes: DNA:snps:cds:p.G357V, p.Q361X, p.Y430H (human)


    • An association has been curated linking MYOC and primary open angle glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Banerjee D, etal., Mol Vis. 2012;18:1548-57. Epub 2012 Jun 13.
  • 5 additional annotations were made from Banerjee D, etal., Mol Vis. 2012;18:1548-57. Epub 2012 Jun 13.
  • 55 RGD objects have been annotated to primary open angle glaucoma  (DOID:1070)
  • 45 papers in RGD have been used to annotate MYOC
  • Curation Notes: DNA:mutations:multiple (human)


    • An association has been curated linking MYOC and primary open angle glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Mendoza-Reinoso V, etal., Mol Vis. 2012;18:2067-75. Epub 2012 Aug 8.
  • 5 additional annotations were made from Mendoza-Reinoso V, etal., Mol Vis. 2012;18:2067-75. Epub 2012 Aug 8.
  • 55 RGD objects have been annotated to primary open angle glaucoma  (DOID:1070)
  • 45 papers in RGD have been used to annotate MYOC
  • Qualifier: susceptibility
  • Curation Notes: DNA:snps, deletion:cds:p.G326S, p.T286R, p.Y453MfsX11 (human)


    • An association has been curated linking MYOC and primary open angle glaucoma in Homo sapiens.        

  • The association was inferred from expression pattern (IEP)
    		•  
  • The annotation was made from Howell KG, etal., J Glaucoma. 2010 Dec;19(9):569-75. doi: 10.1097/IJG.0b013e3181d13020.
  • 2 additional annotations were made from Howell KG, etal., J Glaucoma. 2010 Dec;19(9):569-75. doi: 10.1097/IJG.0b013e3181d13020.
  • 55 RGD objects have been annotated to primary open angle glaucoma  (DOID:1070)
  • 45 papers in RGD have been used to annotate MYOC
  • Curation Notes: protein:increased expression:aqueous humor of eyeball (human)


    • An association has been curated linking MYOC and primary open angle glaucoma in Homo sapiens.        

  • The association was inferred from mutant phenotype (IMP)
    		•  
  • The annotation was made from Anholt RR and Carbone MA, Trends Mol Med. 2013 Oct;19(10):586-93. doi: 10.1016/j.molmed.2013.06.005. Epub 2013 Jul 19.
  • 2 additional annotations were made from Anholt RR and Carbone MA, Trends Mol Med. 2013 Oct;19(10):586-93. doi: 10.1016/j.molmed.2013.06.005. Epub 2013 Jul 19.
  • 55 RGD objects have been annotated to primary open angle glaucoma  (DOID:1070)
  • 45 papers in RGD have been used to annotate MYOC
  • Curation Notes: Y437H;human gene in mouse model


    • An association has been curated linking MYOC and primary open angle glaucoma 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.
  • 55 RGD objects have been annotated to primary open angle glaucoma  (DOID:1070)
  • 45 papers in RGD have been used to annotate MYOC
  • Curation Notes: DNA:snps:cds:p.T209N, p.L215Q (human)


    • An association has been curated linking MYOC and primary open angle glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Mukhopadhyay A, etal., Mol Vis. 2002 Nov 15;8:442-8.
  • 4 additional annotations were made from Mukhopadhyay A, etal., Mol Vis. 2002 Nov 15;8:442-8.
  • 55 RGD objects have been annotated to primary open angle glaucoma  (DOID:1070)
  • 45 papers in RGD have been used to annotate MYOC
  • Curation Notes: DNA:snp:cds:p.Q48H (human)


    • An association has been curated linking MYOC and primary open angle glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Mengkegale M, etal., Mol Vis. 2008 Mar 4;14:413-7.
  • 5 additional annotations were made from Mengkegale M, etal., Mol Vis. 2008 Mar 4;14:413-7.
  • 55 RGD objects have been annotated to primary open angle glaucoma  (DOID:1070)
  • 45 papers in RGD have been used to annotate MYOC
  • Curation Notes: DNA:snps:cds:p.A363T (human)


    • An association has been curated linking MYOC and primary open angle glaucoma 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.
  • 55 RGD objects have been annotated to primary open angle glaucoma  (DOID:1070)
  • 45 papers in RGD have been used to annotate MYOC
  • Qualifier: severity
  • Curation Notes: DNA:snp:cds:pT377M (human)


    • An association has been curated linking MYOC and primary open angle glaucoma 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.
  • 55 RGD objects have been annotated to primary open angle glaucoma  (DOID:1070)
  • 45 papers in RGD have been used to annotate MYOC
  • Curation Notes: DNA:silent mutation, deletion:cds:p.F336F, c.1084delG (human)


    • An association has been curated linking MYOC and primary open angle glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Saura M, etal., Eur J Hum Genet. 2005 Mar;13(3):384-7.
  • 5 additional annotations were made from Saura M, etal., Eur J Hum Genet. 2005 Mar;13(3):384-7.
  • 55 RGD objects have been annotated to primary open angle glaucoma  (DOID:1070)
  • 45 papers in RGD have been used to annotate MYOC
  • Curation Notes: DNA:snps:promoter:g.-126T>G, g.-78T>G, g.-77G>A (human)


    • An association has been curated linking MYOC and primary open angle glaucoma in Homo sapiens.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Zode GS, etal., Invest Ophthalmol Vis Sci. 2012 Mar 21;53(3):1557-65. doi: 10.1167/iovs.11-8837. Print 2012 Mar.
  • The annotation has been inferred from sequence orthology with Myoc (Mus musculus) [(IDA) inferred from direct assay]
  • 2 additional annotations were made from Zode GS, etal., Invest Ophthalmol Vis Sci. 2012 Mar 21;53(3):1557-65. doi: 10.1167/iovs.11-8837. Print 2012 Mar.
  • 55 RGD objects have been annotated to primary open angle glaucoma  (DOID:1070)
  • 45 papers in RGD have been used to annotate MYOC


    • An association has been curated linking MYOC and primary open angle glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Hewitt AW, etal., Invest Ophthalmol Vis Sci. 2007 Jan;48(1):238-43.
  • 4 additional annotations were made from Hewitt AW, etal., Invest Ophthalmol Vis Sci. 2007 Jan;48(1):238-43.
  • 55 RGD objects have been annotated to primary open angle glaucoma  (DOID:1070)
  • 45 papers in RGD have been used to annotate MYOC
  • Curation Notes: DNA:snp:cds:p.G252R (human)


    • An association has been curated linking MYOC and primary open angle glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Chen J, etal., Mol Vis. 2011;17:1431-5. Epub 2011 May 31.
  • 5 additional annotations were made from Chen J, etal., Mol Vis. 2011;17:1431-5. Epub 2011 May 31.
  • 55 RGD objects have been annotated to primary open angle glaucoma  (DOID:1070)
  • 45 papers in RGD have been used to annotate MYOC
  • Qualifier: susceptibility
  • Curation Notes: DNA:snp:cds:p.G367R (human)


    • An association has been curated linking MYOC and primary open angle glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Jia LY, etal., Mol Vis. 2009;15:89-98. Epub 2009 Jan 16.
  • 4 additional annotations were made from Jia LY, etal., Mol Vis. 2009;15:89-98. Epub 2009 Jan 16.
  • 55 RGD objects have been annotated to primary open angle glaucoma  (DOID:1070)
  • 45 papers in RGD have been used to annotate MYOC
  • Qualifier: susceptibility
  • Curation Notes: DNA:snps:cds:p.G12R, p.V53A, p.T353I (human)


    • An association has been curated linking MYOC and primary open angle glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Faucher M, etal., Hum Mol Genet. 2002 Sep 1;11(18):2077-90.
  • 5 additional annotations were made from Faucher M, etal., Hum Mol Genet. 2002 Sep 1;11(18):2077-90.
  • 55 RGD objects have been annotated to primary open angle glaucoma  (DOID:1070)
  • 45 papers in RGD have been used to annotate MYOC
  • Qualifier: susceptibility
  • Curation Notes: DNA:snps:cds:multiple (human)


    • An association has been curated linking MYOC and primary open angle glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:11350219 (Homo sapiens)
  • 55 RGD objects have been annotated to primary open angle glaucoma  (DOID:1070)
  • 45 papers in RGD have been used to annotate MYOC
  • Curation Notes: ClinVar Annotator: match by term: Primary open angle glaucoma


    • An association has been curated linking MYOC and primary open angle glaucoma in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:8597715 (Homo sapiens)
  • 55 RGD objects have been annotated to primary open angle glaucoma  (DOID:1070)
  • 45 papers in RGD have been used to annotate MYOC
  • Curation Notes: ClinVar Annotator: match by term: Primary open angle glaucoma
  • Original References(s): PMID:10815160 PMID:11004290 PMID:11292420 PMID:11535458 PMID:11803488 PMID:11815346 PMID:12189160 PMID:12522550 PMID:12872267 PMID:17562996 PMID:17615537 PMID:19023451 PMID:20021252 PMID:22933836 PMID:23029558 PMID:23304066 PMID:24732711 PMID:25741868 PMID:26396484 PMID:28492532 PMID:9005853 PMID:9639450


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