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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking NKX2-5 and aortic valve disease 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Wang J, etal., Genet Mol Res. 2011 Nov 29;10(4):2905-15. doi: 10.4238/2011.November.29.1.
  • 2 additional annotations were made from Wang J, etal., Genet Mol Res. 2011 Nov 29;10(4):2905-15. doi: 10.4238/2011.November.29.1.
  • 26 RGD objects have been annotated to aortic valve disease 2  (DOID:0080334)
  • 24 papers in RGD have been used to annotate NKX2-5
  • Curation Notes: DNA:missense mutations: :p.Q22K, p.R36S, p.E54K (human)


  • An association has been curated linking NKX2-5 and aortic valve disease 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Qu XK, etal., Am J Cardiol. 2014 Dec 15;114(12):1891-5. doi: 10.1016/j.amjcard.2014.09.028. Epub 2014 Sep 28.
  • 2 additional annotations were made from Qu XK, etal., Am J Cardiol. 2014 Dec 15;114(12):1891-5. doi: 10.1016/j.amjcard.2014.09.028. Epub 2014 Sep 28.
  • 26 RGD objects have been annotated to aortic valve disease 2  (DOID:0080334)
  • 24 papers in RGD have been used to annotate NKX2-5
  • Curation Notes: DNA:nonsense mutation:exon:p.K192X (human)


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