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GENE - TERM ANNOTATION REPORT

9 Annotations Found.

An association has been curated linking HTRA1 and age related macular degeneration 7 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Goto A, etal., J Ocul Biol Dis Infor. 2009 Dec 22;2(4):164-175.
  • 5 additional annotations were made from Goto A, etal., J Ocul Biol Dis Infor. 2009 Dec 22;2(4):164-175.
  • 3 RGD objects have been annotated to age related macular degeneration 7  (DOID:0110019)
  • 37 papers in RGD have been used to annotate HTRA1
  • Curation Notes: DNA:polymorphisms:multiple (human)


    • An association has been curated linking HTRA1 and age related macular degeneration 7 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Hadley D, etal., Invest Ophthalmol Vis Sci. 2010 Apr;51(4):2191-6. doi: 10.1167/iovs.09-3798. Epub 2009 Nov 20.
  • 4 additional annotations were made from Hadley D, etal., Invest Ophthalmol Vis Sci. 2010 Apr;51(4):2191-6. doi: 10.1167/iovs.09-3798. Epub 2009 Nov 20.
  • 3 RGD objects have been annotated to age related macular degeneration 7  (DOID:0110019)
  • 37 papers in RGD have been used to annotate HTRA1
  • Qualifier: susceptibility
  • Curation Notes: DNA:snp:intron:g.IVS1+9824G>A (rs932275) (human)


    • An association has been curated linking HTRA1 and age related macular degeneration 7 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Kaur I, etal., Invest Ophthalmol Vis Sci. 2008 May;49(5):1771-6. doi: 10.1167/iovs.07-0560.
  • 3 additional annotations were made from Kaur I, etal., Invest Ophthalmol Vis Sci. 2008 May;49(5):1771-6. doi: 10.1167/iovs.07-0560.
  • 3 RGD objects have been annotated to age related macular degeneration 7  (DOID:0110019)
  • 37 papers in RGD have been used to annotate HTRA1
  • Qualifier: susceptibility
  • Curation Notes: DNA:snp:promoter:g.-497C>T (rs2672598) (human)


    • An association has been curated linking HTRA1 and age related macular degeneration 7 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Gibbs D, etal., Vision Res. 2008 Feb;48(5):685-9. doi: 10.1016/j.visres.2007.10.022. Epub 2008 Jan 22.
  • 3 additional annotations were made from Gibbs D, etal., Vision Res. 2008 Feb;48(5):685-9. doi: 10.1016/j.visres.2007.10.022. Epub 2008 Jan 22.
  • 3 RGD objects have been annotated to age related macular degeneration 7  (DOID:0110019)
  • 37 papers in RGD have been used to annotate HTRA1
  • Qualifier: susceptibility
  • Curation Notes: DNA:polymorphisms:multiple (human)


    • An association has been curated linking HTRA1 and age related macular degeneration 7 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Andreoli MT, etal., Am J Ophthalmol. 2009 Dec;148(6):869-74. doi: 10.1016/j.ajo.2009.07.002. Epub 2009 Oct 1.
  • 2 additional annotations were made from Andreoli MT, etal., Am J Ophthalmol. 2009 Dec;148(6):869-74. doi: 10.1016/j.ajo.2009.07.002. Epub 2009 Oct 1.
  • 3 RGD objects have been annotated to age related macular degeneration 7  (DOID:0110019)
  • 37 papers in RGD have been used to annotate HTRA1
  • Qualifier: severity
  • Curation Notes: DNA:snps:promoter, exons:g.-497C>T, g.+108G>T/C, g.5230C>T (rs2672598, rs2293870, rs1049331) (human)


    • An association has been curated linking HTRA1 and age related macular degeneration 7 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:8597535 (Homo sapiens)
  • 3 RGD objects have been annotated to age related macular degeneration 7  (DOID:0110019)
  • 37 papers in RGD have been used to annotate HTRA1
  • Curation Notes: ClinVar Annotator: match by term: Susceptibility to neovascular type of age-related macular degeneration
  • Original References(s): PMID:17053108 PMID:17053109 PMID:17568988 PMID:18511946 PMID:19259132


    • An association has been curated linking HTRA1 and age related macular degeneration 7 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 3 RGD objects have been annotated to age related macular degeneration 7  (DOID:0110019)
  • 37 papers in RGD have been used to annotate HTRA1


    • An association has been curated linking HTRA1 and age related macular degeneration 7 in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 3 RGD objects have been annotated to age related macular degeneration 7  (DOID:0110019)
  • 37 papers in RGD have been used to annotate HTRA1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking HTRA1 and age related macular degeneration 7 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:155266496 (Homo sapiens)
  • 3 RGD objects have been annotated to age related macular degeneration 7  (DOID:0110019)
  • 37 papers in RGD have been used to annotate HTRA1
  • Curation Notes: ClinVar Annotator: match by term: Age related macular degeneration 7
  • Original References(s): PMID:25741868 PMID:30068478 PMID:31719132 PMID:34510819 PMID:34626176


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