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GENE - TERM ANNOTATION REPORT

8 Annotations Found.

An association has been curated linking Myoc and primary open angle glaucoma in Ictidomys tridecemlineatus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
  • The annotation has been inferred from sequence orthology with MYOC (Homo sapiens)
  • 44 RGD objects have been annotated to primary open angle glaucoma  (DOID:1070)
  • 0 papers in RGD have been used to annotate Myoc
  • Qualifier: susceptibility
  • Curation Notes: DNA:snp:cds:p.G367R (human)
  • Original References(s): PMID:21655360 REF_RGD_ID:7401170


    • An association has been curated linking Myoc and primary open angle glaucoma in Ictidomys tridecemlineatus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
  • The annotation has been inferred from sequence orthology with MYOC (Homo sapiens)
  • 44 RGD objects have been annotated to primary open angle glaucoma  (DOID:1070)
  • 0 papers in RGD have been used to annotate Myoc
  • Qualifier: severity
  • Curation Notes: DNA:snp:promoter:g.-1000C>G (human)
  • Original References(s): PMID:11595024 REF_RGD_ID:1600842


    • An association has been curated linking Myoc and primary open angle glaucoma in Ictidomys tridecemlineatus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
  • The annotation has been inferred from sequence orthology with MYOC (Homo sapiens)
  • 44 RGD objects have been annotated to primary open angle glaucoma  (DOID:1070)
  • 0 papers in RGD have been used to annotate Myoc
  • Qualifier: severity
  • Curation Notes: DNA:snp:cds:pT377M (human)
  • Original References(s): PMID:16431959 REF_RGD_ID:7401245


    • An association has been curated linking Myoc and primary open angle glaucoma in Ictidomys tridecemlineatus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
  • The annotation has been inferred from sequence orthology with MYOC (Homo sapiens)
  • 44 RGD objects have been annotated to primary open angle glaucoma  (DOID:1070)
  • 0 papers in RGD have been used to annotate Myoc
  • Qualifier: susceptibility
  • Curation Notes: DNA:snps:cds:multiple (human)
  • Original References(s): PMID:12189160 REF_RGD_ID:7401189


    • An association has been curated linking Myoc and primary open angle glaucoma in Ictidomys tridecemlineatus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
  • The annotation has been inferred from sequence orthology with MYOC (Homo sapiens)
  • 44 RGD objects have been annotated to primary open angle glaucoma  (DOID:1070)
  • 0 papers in RGD have been used to annotate Myoc
  • Qualifier: susceptibility
  • Curation Notes: DNA:snps:cds:p.G12R, p.V53A, p.T353I (human)
  • Original References(s): PMID:19145250 REF_RGD_ID:7401163


    • An association has been curated linking Myoc and primary open angle glaucoma in Ictidomys tridecemlineatus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
  • The annotation has been inferred from sequence orthology with MYOC (Homo sapiens)
  • 44 RGD objects have been annotated to primary open angle glaucoma  (DOID:1070)
  • 0 papers in RGD have been used to annotate Myoc
  • Qualifier: no_association
  • Curation Notes: DNA:snp:promoter:g.-1000C>G (human)
  • Original References(s): PMID:12215093 REF_RGD_ID:7401240


    • An association has been curated linking Myoc and primary open angle glaucoma in Ictidomys tridecemlineatus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
  • The annotation has been inferred from sequence orthology with MYOC (Homo sapiens)
  • 44 RGD objects have been annotated to primary open angle glaucoma  (DOID:1070)
  • 0 papers in RGD have been used to annotate Myoc
  • Qualifier: susceptibility
  • Curation Notes: DNA:snps, deletion:cds:p.G326S, p.T286R, p.Y453MfsX11 (human)
  • Original References(s): PMID:22879734 REF_RGD_ID:7401168


    • An association has been curated linking Myoc and primary open angle glaucoma in Ictidomys tridecemlineatus.        

  • 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]
  • 44 RGD objects have been annotated to primary open angle glaucoma  (DOID:1070)
  • 0 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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