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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking DKC1 and Nail dystrophy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Alder JK, etal., Hum Mutat. 2013 Nov;34(11):1481-5. doi: 10.1002/humu.22397. Epub 2013 Sep 11.
  • 5 additional annotations were made from Alder JK, etal., Hum Mutat. 2013 Nov;34(11):1481-5. doi: 10.1002/humu.22397. Epub 2013 Sep 11.
  • 144 RGD objects have been annotated to Nail dystrophy  (HP:0008404)
  • 14 papers in RGD have been used to annotate DKC1
  • Curation Notes: DNA:missense mutation:exon: p.P409A (c.1226C>G) (human)


  • An association has been curated linking DKC1 and Nail dystrophy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 144 RGD objects have been annotated to Nail dystrophy  (HP:0008404)
  • 14 papers in RGD have been used to annotate DKC1
  • Original References(s): OMIM:305000


  • An association has been curated linking DKC1 and Nail dystrophy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 144 RGD objects have been annotated to Nail dystrophy  (HP:0008404)
  • 14 papers in RGD have been used to annotate DKC1
  • Original References(s): ORPHA:3322


  • An association has been curated linking DKC1 and Nail dystrophy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 144 RGD objects have been annotated to Nail dystrophy  (HP:0008404)
  • 14 papers in RGD have been used to annotate DKC1
  • Original References(s): ORPHA:1775


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