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GENE - TERM ANNOTATION REPORT

14 Annotations Found.

An association has been curated linking VSX1 and Keratoconus 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Tang YG, etal., Cornea. 2008 Feb;27(2):189-92. doi: 10.1097/ICO.0b013e31815a50e7.
  • 2 additional annotations were made from Tang YG, etal., Cornea. 2008 Feb;27(2):189-92. doi: 10.1097/ICO.0b013e31815a50e7.
  • 8 RGD objects have been annotated to Keratoconus 1  (DOID:9003318)
  • 13 papers in RGD have been used to annotate VSX1
  • Qualifier: no_association
  • Curation Notes: DNA:missense mutations:cds:p.L159M, p.R166W, p.H244R (human)


    • An association has been curated linking VSX1 and Keratoconus 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Liskova P, etal., Mol Vis. 2007 Oct 4;13:1887-91.
  • 2 additional annotations were made from Liskova P, etal., Mol Vis. 2007 Oct 4;13:1887-91.
  • 8 RGD objects have been annotated to Keratoconus 1  (DOID:9003318)
  • 13 papers in RGD have been used to annotate VSX1
  • Qualifier: no_association
  • Curation Notes: DNA:missense mutation:cds:p.D144E (human)


    • An association has been curated linking VSX1 and Keratoconus 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Bisceglia L, etal., Invest Ophthalmol Vis Sci. 2005 Jan;46(1):39-45.
  • 4 additional annotations were made from Bisceglia L, etal., Invest Ophthalmol Vis Sci. 2005 Jan;46(1):39-45.
  • 8 RGD objects have been annotated to Keratoconus 1  (DOID:9003318)
  • 13 papers in RGD have been used to annotate VSX1
  • Curation Notes: DNA:missense mutations:cds:multiple (human)


    • An association has been curated linking VSX1 and Keratoconus 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from De Bonis P, etal., Mol Vis. 2011;17:2482-94. Epub 2011 Sep 24.
  • 2 additional annotations were made from De Bonis P, etal., Mol Vis. 2011;17:2482-94. Epub 2011 Sep 24.
  • 8 RGD objects have been annotated to Keratoconus 1  (DOID:9003318)
  • 13 papers in RGD have been used to annotate VSX1
  • Curation Notes: DNA:missense mutation:cds:p.G239R (human)


    • An association has been curated linking VSX1 and Keratoconus 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Mok JW, etal., J Hum Genet. 2008;53(9):842-9. doi: 10.1007/s10038-008-0319-6. Epub 2008 Jul 15.
  • 6 additional annotations were made from Mok JW, etal., J Hum Genet. 2008;53(9):842-9. doi: 10.1007/s10038-008-0319-6. Epub 2008 Jul 15.
  • 8 RGD objects have been annotated to Keratoconus 1  (DOID:9003318)
  • 13 papers in RGD have been used to annotate VSX1
  • Curation Notes: DNA:missense mutations, snp:exon, intron:p.G160V, p.N151S, IVS1-11T>A (human)


    • An association has been curated linking VSX1 and Keratoconus 1 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:8596748 (Homo sapiens)
  • 8 RGD objects have been annotated to Keratoconus 1  (DOID:9003318)
  • 13 papers in RGD have been used to annotate VSX1
  • Curation Notes: ClinVar Annotator: match by term: Keratoconus 1
  • Original References(s): PMID:11978762 PMID:18216574 PMID:21976959


    • An association has been curated linking VSX1 and Keratoconus 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 8 RGD objects have been annotated to Keratoconus 1  (DOID:9003318)
  • 13 papers in RGD have been used to annotate VSX1


    • An association has been curated linking VSX1 and Keratoconus 1 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:8596746 (Homo sapiens)
  • 8 RGD objects have been annotated to Keratoconus 1  (DOID:9003318)
  • 13 papers in RGD have been used to annotate VSX1
  • Curation Notes: ClinVar Annotator: match by term: Keratoconus 1
  • Original References(s): PMID:11978762 PMID:22171159


    • An association has been curated linking VSX1 and Keratoconus 1 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:11630036 (Homo sapiens)
  • 8 RGD objects have been annotated to Keratoconus 1  (DOID:9003318)
  • 13 papers in RGD have been used to annotate VSX1
  • Curation Notes: ClinVar Annotator: match by term: Keratoconus 1
  • Original References(s): PMID:11978762 PMID:16303937 PMID:21976959 PMID:25741868 PMID:28492532


    • An association has been curated linking VSX1 and Keratoconus 1 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
  • 8 RGD objects have been annotated to Keratoconus 1  (DOID:9003318)
  • 13 papers in RGD have been used to annotate VSX1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking VSX1 and Keratoconus 1 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:8596750 (Homo sapiens)
  • 8 RGD objects have been annotated to Keratoconus 1  (DOID:9003318)
  • 13 papers in RGD have been used to annotate VSX1
  • Curation Notes: ClinVar Annotator: match by term: VSX1-related condition
  • Original References(s): PMID:15623752 PMID:21976959 PMID:25741868


    • An association has been curated linking VSX1 and Keratoconus 1 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:11632198 (Homo sapiens)
  • 8 RGD objects have been annotated to Keratoconus 1  (DOID:9003318)
  • 13 papers in RGD have been used to annotate VSX1
  • Curation Notes: ClinVar Annotator: match by term: VSX1-related condition
  • Original References(s): PMID:16384943 PMID:25741868 PMID:28492532


    • An association has been curated linking VSX1 and Keratoconus 1 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:11626439|RGD:11630392|RGD:15103814|RGD:28886420 (Homo sapiens) & RGD:11626439|RGD:11630392|RGD:15103814|RGD:28886420 (Homo sapiens) & RGD:11626439|RGD:11630392|RGD:15103814|RGD:28886420 (Homo sapiens) & RGD:11626439|RGD:11630392|RGD:15103814|RGD:28886420 (Homo sapiens)
  • 8 RGD objects have been annotated to Keratoconus 1  (DOID:9003318)
  • 13 papers in RGD have been used to annotate VSX1
  • Curation Notes: ClinVar Annotator: match by term: Keratoconus 1 | ClinVar Annotator: match by term: VSX1-related condition
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking VSX1 and Keratoconus 1 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:152980817|RGD:401731329 (Homo sapiens) & RGD:152980817|RGD:401731329 (Homo sapiens)
  • 8 RGD objects have been annotated to Keratoconus 1  (DOID:9003318)
  • 13 papers in RGD have been used to annotate VSX1
  • Curation Notes: ClinVar Annotator: match by term: Keratoconus 1 | ClinVar Annotator: match by term: VSX1-related condition
  • Original References(s): PMID:25741868


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