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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking ABCC6 and Localized skin lesion 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.
  • 755 RGD objects have been annotated to Localized skin lesion  (HP:0011355)
  • 20 papers in RGD have been used to annotate ABCC6
  • Curation Notes: DNA:mutations:multiple

  • This annotation was curated on 2019-03-20 12:57:33.0 by RGD . For more information contact us

    An association has been curated linking ABCC6 and Localized skin lesion 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.
  • 755 RGD objects have been annotated to Localized skin lesion  (HP:0011355)
  • 20 papers in RGD have been used to annotate ABCC6
  • Curation Notes: DNA:nonsense mutation:exon:p.R1141X (3421C>T)

  • This annotation was curated on 2019-03-19 14:41:46.0 by RGD . For more information contact us

    An association has been curated linking ABCC6 and Localized skin lesion 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.
  • 755 RGD objects have been annotated to Localized skin lesion  (HP:0011355)
  • 20 papers in RGD have been used to annotate ABCC6
  • Curation Notes: DNA:mutations:exon, intron:multiple

  • This annotation was curated on 2019-03-19 14:28:49.0 by RGD . For more information contact us

    An association has been curated linking ABCC6 and Localized skin lesion 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.
  • 755 RGD objects have been annotated to Localized skin lesion  (HP:0011355)
  • 20 papers in RGD have been used to annotate ABCC6
  • Qualifier: no_association
  • Curation Notes: DNA:SNPs:promoter:c.-127C>T, c.-132C>T

  • This annotation was curated on 2019-03-20 12:51:41.0 by RGD . For more information contact us

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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.