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GENE - TERM ANNOTATION REPORT

14 Annotations Found.

An association has been curated linking Myoc and juvenile glaucoma in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Wiggs JL, etal., Am J Hum Genet. 1998 Nov;63(5):1549-52.
  • The annotation has been inferred from sequence orthology with MYOC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Wiggs JL, etal., Am J Hum Genet. 1998 Nov;63(5):1549-52.
  • 6 RGD objects have been annotated to juvenile glaucoma  (DOID:1068)
  • 49 papers in RGD have been used to annotate Myoc
  • Curation Notes: DNA:snps:cds:p.P370L, p.Y437H (human)


    • An association has been curated linking Myoc and juvenile glaucoma in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Jia LY, etal., Invest Ophthalmol Vis Sci. 2009 Aug;50(8):3743-9. doi: 10.1167/iovs.08-3151. Epub 2009 Feb 21.
  • The annotation has been inferred from sequence orthology with MYOC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Jia LY, etal., Invest Ophthalmol Vis Sci. 2009 Aug;50(8):3743-9. doi: 10.1167/iovs.08-3151. Epub 2009 Feb 21.
  • 6 RGD objects have been annotated to juvenile glaucoma  (DOID:1068)
  • 49 papers in RGD have been used to annotate Myoc
  • Curation Notes: DNA:snp:cds:p.D384N (human)


    • An association has been curated linking Myoc and juvenile glaucoma in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Avisar I, etal., Mol Vis. 2009 Sep 24;15:1945-50.
  • The annotation has been inferred from sequence orthology with MYOC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Avisar I, etal., Mol Vis. 2009 Sep 24;15:1945-50.
  • 6 RGD objects have been annotated to juvenile glaucoma  (DOID:1068)
  • 49 papers in RGD have been used to annotate Myoc
  • Curation Notes: DNA:snp:cds:p.Y371D (human)


    • An association has been curated linking Myoc and juvenile glaucoma in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Waryah AM, etal., Gene. 2013 Oct 10;528(2):356-9. doi: 10.1016/j.gene.2013.07.016. Epub 2013 Jul 23.
  • The annotation has been inferred from sequence orthology with MYOC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Waryah AM, etal., Gene. 2013 Oct 10;528(2):356-9. doi: 10.1016/j.gene.2013.07.016. Epub 2013 Jul 23.
  • 6 RGD objects have been annotated to juvenile glaucoma  (DOID:1068)
  • 49 papers in RGD have been used to annotate Myoc
  • Curation Notes: DNA:snp:cds:pT377R (human)


    • An association has been curated linking Myoc and juvenile glaucoma in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Zhao X, etal., Mol Vis. 2010 Aug 25;16:1728-35.
  • The annotation has been inferred from sequence orthology with MYOC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Zhao X, etal., Mol Vis. 2010 Aug 25;16:1728-35.
  • 6 RGD objects have been annotated to juvenile glaucoma  (DOID:1068)
  • 49 papers in RGD have been used to annotate Myoc
  • Curation Notes: DNA:snp:cds:p.N450Y (human)


    • An association has been curated linking Myoc and juvenile glaucoma in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Braghini CA, etal., Gene. 2013 Jul 1;523(1):50-7. doi: 10.1016/j.gene.2013.02.054. Epub 2013 Apr 5.
  • The annotation has been inferred from sequence orthology with MYOC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Braghini CA, etal., Gene. 2013 Jul 1;523(1):50-7. doi: 10.1016/j.gene.2013.02.054. Epub 2013 Apr 5.
  • 6 RGD objects have been annotated to juvenile glaucoma  (DOID:1068)
  • 49 papers in RGD have been used to annotate Myoc
  • Curation Notes: DNA:insertion:cds:p.D395_E396insDP (human)


    • An association has been curated linking Myoc and juvenile glaucoma in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • 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.
  • The annotation has been inferred from sequence orthology with MYOC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 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.
  • 6 RGD objects have been annotated to juvenile glaucoma  (DOID:1068)
  • 49 papers in RGD have been used to annotate Myoc
  • Curation Notes: DNA:snp:cds:p.V251A (human)


    • An association has been curated linking Myoc and juvenile glaucoma in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Campos-Mollo E, etal., Mol Vis. 2007 Sep 13;13:1666-73.
  • The annotation has been inferred from sequence orthology with MYOC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Campos-Mollo E, etal., Mol Vis. 2007 Sep 13;13:1666-73.
  • 6 RGD objects have been annotated to juvenile glaucoma  (DOID:1068)
  • 49 papers in RGD have been used to annotate Myoc
  • Curation Notes: DNA:snp:cds:pD380A (human)


    • An association has been curated linking Myoc and juvenile glaucoma in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Fan BJ, etal., Arch Ophthalmol. 2006 Jan;124(1):102-6.
  • The annotation has been inferred from sequence orthology with MYOC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Fan BJ, etal., Arch Ophthalmol. 2006 Jan;124(1):102-6.
  • 6 RGD objects have been annotated to juvenile glaucoma  (DOID:1068)
  • 49 papers in RGD have been used to annotate Myoc
  • Curation Notes: DNA:snp:cds:pC245Y (human)


    • An association has been curated linking Myoc and juvenile glaucoma in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Michels-Rautenstrauss K, etal., Hum Mutat. 2002 Dec;20(6):479-80.
  • The annotation has been inferred from sequence orthology with MYOC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Michels-Rautenstrauss K, etal., Hum Mutat. 2002 Dec;20(6):479-80.
  • 6 RGD objects have been annotated to juvenile glaucoma  (DOID:1068)
  • 49 papers in RGD have been used to annotate Myoc
  • Curation Notes: DNA:missense mutations, nonsense mutation:cds:multiple (human)


    • An association has been curated linking Myoc and juvenile glaucoma in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Yen YC, etal., Mol Vis. 2007 Sep 10;13:1627-34.
  • The annotation has been inferred from sequence orthology with MYOC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Yen YC, etal., Mol Vis. 2007 Sep 10;13:1627-34.
  • 6 RGD objects have been annotated to juvenile glaucoma  (DOID:1068)
  • 49 papers in RGD have been used to annotate Myoc
  • Qualifier: susceptibility
  • Curation Notes: DNA:nonsense mutation, missense mutation, snps:exon, intron, 3' utr:multiple (human)


    • An association has been curated linking Myoc and juvenile glaucoma in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with MYOC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to juvenile glaucoma  (DOID:1068)
  • 49 papers in RGD have been used to annotate Myoc


    • An association has been curated linking Myoc and juvenile glaucoma in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • 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 from sequence orthology with MYOC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to juvenile glaucoma  (DOID:1068)
  • 49 papers in RGD have been used to annotate Myoc
  • Curation Notes: ClinVar Annotator: match by term: Glaucoma 1, open angle, A | ClinVar Annotator: match by term: Glaucoma of childhood | ClinVar Annotator: match by term: MYOC-Related Disorders | ClinVar Annotator: match by term: Primary open angle glaucoma juvenile onset 1
  • Original References(s): PMID:10196380 PMID:10330365 PMID:10545602 PMID:10644174 PMID:10798654 PMID:10815160 PMID:10819638 PMID:10873982 PMID:10980537 PMID:11004290 PMID:11133859 PMID:11152659 PMID:11281418 PMID:11292420 PMID:11298682 PMID:11535458 PMID:11604506 PMID:11774072 PMID:11803488 PMID:11815346 PMID:12189160 PMID:12356829 PMID:12447164 PMID:12522550 PMID:12868033 PMID:12872267 PMID:14193667 PMID:14627955 PMID:14688426 PMID:14767915 PMID:15025728 PMID:15069026 PMID:15723004 PMID:15733270 PMID:15790895 PMID:15851979 PMID:16148883 PMID:16288197 PMID:16297911 PMID:16401791 PMID:16466712 PMID:16636654 PMID:17210859 PMID:17438518 PMID:17499207 PMID:17562996 PMID:17563717 PMID:17615537 PMID:17867509 PMID:17893664 PMID:18728751 PMID:18776955 PMID:19023451 PMID:19145250 PMID:19234343 PMID:20021252 PMID:21552496 PMID:21612213 PMID:21850185 PMID:22194650 PMID:22736945 PMID:22933836 PMID:23029558 PMID:23304066 PMID:23922489 PMID:24033266 PMID:24732711 PMID:24825108 PMID:25741868 PMID:25777973 PMID:26396484 PMID:26633542 PMID:27092720 PMID:27485216 PMID:28492532 PMID:30267046 PMID:30484747 PMID:32818018 PMID:35196929 PMID:35615698 PMID:3756132 PMID:6770678 PMID:8513321 PMID:9005853 PMID:9328473 PMID:9345106 PMID:9361308 PMID:9510647 PMID:9535666 PMID:9556305 PMID:9639450 PMID:9697688 PMID:9754180 PMID:9804137


    • An association has been curated linking Myoc and juvenile glaucoma in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with MYOC (Homo sapiens) [(EXP) inferred from experiment]
  • 6 RGD objects have been annotated to juvenile glaucoma  (DOID:1068)
  • 49 papers in RGD have been used to annotate Myoc
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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