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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking ABCC6 and Abnormal fundus morphology in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Schulz V, etal., Hum Mutat. 2006 Aug;27(8):831.
  • 11 additional annotations were made from Schulz V, etal., Hum Mutat. 2006 Aug;27(8):831.
  • 1642 RGD objects have been annotated to Abnormal fundus morphology  (HP:0001098)
  • 20 papers in RGD have been used to annotate ABCC6
  • Curation Notes: DNA:mutations:multiple


    • An association has been curated linking ABCC6 and Abnormal fundus morphology in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Hu X, etal., Invest Ophthalmol Vis Sci. 2003 May;44(5):1824-9.
  • 4 additional annotations were made from Hu X, etal., Invest Ophthalmol Vis Sci. 2003 May;44(5):1824-9.
  • 1642 RGD objects have been annotated to Abnormal fundus morphology  (HP:0001098)
  • 20 papers in RGD have been used to annotate ABCC6
  • Curation Notes: DNA:nonsense mutation:exon:p.R1141X (3421C>T)


    • An association has been curated linking ABCC6 and Abnormal fundus morphology in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Pfendner EG, etal., J Med Genet. 2007 Oct;44(10):621-8. Epub 2007 Jul 6.
  • 5 additional annotations were made from Pfendner EG, etal., J Med Genet. 2007 Oct;44(10):621-8. Epub 2007 Jul 6.
  • 1642 RGD objects have been annotated to Abnormal fundus morphology  (HP:0001098)
  • 20 papers in RGD have been used to annotate ABCC6
  • Curation Notes: DNA:mutations:exon, intron:multiple


    • An association has been curated linking ABCC6 and Abnormal fundus morphology in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Schulz V, etal., Hum Mutat. 2006 Aug;27(8):831.
  • 11 additional annotations were made from Schulz V, etal., Hum Mutat. 2006 Aug;27(8):831.
  • 1642 RGD objects have been annotated to Abnormal fundus morphology  (HP:0001098)
  • 20 papers in RGD have been used to annotate ABCC6
  • Qualifier: no_association
  • Curation Notes: DNA:SNPs:promoter:c.-127C>T, c.-132C>T


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