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GENE - TERM ANNOTATION REPORT

8 Annotations Found.

An association has been curated linking C2 and macular degeneration in Pan paniscus.        

  • 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 C2 (Homo sapiens)
  • 156 RGD objects have been annotated to macular degeneration  (DOID:4448)
  • 0 papers in RGD have been used to annotate C2
  • Qualifier: no_association
  • Curation Notes: DNA:missense mutation:cds:p.E318D (rs9332739) (human)
  • Original References(s): PMID:19169232 PMID:23112567 REF_RGD_ID:7411691 REF_RGD_ID:7411693


  • An association has been curated linking C2 and macular degeneration in Pan paniscus.        

  • 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 C2 (Homo sapiens)
  • 156 RGD objects have been annotated to macular degeneration  (DOID:4448)
  • 0 papers in RGD have been used to annotate C2
  • Qualifier: susceptibility
  • Curation Notes: DNA:SNP, haplotype:intron:c.1360+62G>T (rs547154) (human)
  • Original References(s): PMID:18806293 REF_RGD_ID:7411713


  • An association has been curated linking C2 and macular degeneration in Pan paniscus.        

  • 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 C2 (Homo sapiens)
  • 156 RGD objects have been annotated to macular degeneration  (DOID:4448)
  • 0 papers in RGD have been used to annotate C2
  • Qualifier: no_association
  • Curation Notes: DNA:missense mutation, snp:cds, intron:p.E318D, c.1360+62G>T (rs9332739, rs547154) (human)
  • Original References(s): PMID:22273503 REF_RGD_ID:7411731


  • An association has been curated linking C2 and macular degeneration in Pan paniscus.        

  • 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 C2 (Homo sapiens)
  • 156 RGD objects have been annotated to macular degeneration  (DOID:4448)
  • 0 papers in RGD have been used to annotate C2
  • Qualifier: susceptibility
  • Curation Notes: DNA:missense mutation, haplotype:cds:p.E318D (rs9332739) (human)
  • Original References(s): PMID:23233260 REF_RGD_ID:7411720


  • An association has been curated linking C2 and macular degeneration in Pan paniscus.        

  • 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 C2 (Homo sapiens)
  • 156 RGD objects have been annotated to macular degeneration  (DOID:4448)
  • 0 papers in RGD have been used to annotate C2
  • Qualifier: susceptibility
  • Curation Notes: DNA:SNP:intron:c.1360+62G>T (rs547154) (human)
  • Original References(s): PMID:22232432 REF_RGD_ID:7411694


  • An association has been curated linking C2 and macular degeneration in Pan paniscus.        

  • 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 C2 (Homo sapiens)
  • 156 RGD objects have been annotated to macular degeneration  (DOID:4448)
  • 0 papers in RGD have been used to annotate C2
  • Qualifier: susceptibility
  • Curation Notes: DNA:polymorphism
  • Original References(s): PMID:16518403 REF_RGD_ID:1600582


  • An association has been curated linking C2 and macular degeneration in Pan paniscus.        

  • 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 C2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 156 RGD objects have been annotated to macular degeneration  (DOID:4448)
  • 0 papers in RGD have been used to annotate C2
  • Curation Notes: ClinVar Annotator: match by term: Macular degeneration
  • Original References(s): PMID:16518403 PMID:16936732 PMID:17576681 PMID:18806293 PMID:20108004 PMID:20513133 PMID:21541267 PMID:22440158 PMID:2249879 PMID:24033266 PMID:24652797 PMID:25741868 PMID:28492532 PMID:6308626 PMID:8181962 PMID:9536098


  • An association has been curated linking C2 and macular degeneration in Pan paniscus.        

  • 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 C2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 156 RGD objects have been annotated to macular degeneration  (DOID:4448)
  • 0 papers in RGD have been used to annotate C2
  • Curation Notes: ClinVar Annotator: match by term: Macular degeneration
  • Original References(s): PMID:1577763 PMID:16199547 PMID:16518403 PMID:16936732 PMID:17576681 PMID:18806293 PMID:20108004 PMID:20513133 PMID:21541267 PMID:22440158 PMID:2249879 PMID:24033266 PMID:24652797 PMID:25741868 PMID:28492532 PMID:35753512 PMID:6308626 PMID:8181962 PMID:9536098 PMID:9616367


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