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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Nkx2-5 and atrioventricular block in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
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  • The annotation was made from Gutierrez-Roelens I, etal., Eur J Hum Genet. 2006 Dec;14(12):1313-6. Epub 2006 Aug 9.
  • The annotation has been inferred from sequence orthology with NKX2-5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Gutierrez-Roelens I, etal., Eur J Hum Genet. 2006 Dec;14(12):1313-6. Epub 2006 Aug 9.
  • 31 RGD objects have been annotated to atrioventricular block  (DOID:0050820)
  • 37 papers in RGD have been used to annotate Nkx2-5
  • Curation Notes: DNA:nonsense mutation:exon:p.Y256X (c.768T>A) (human)


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