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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Nkx2-1 and Benign Familial Chorea in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Breedveld GJ, etal., Hum Mol Genet. 2002 Apr 15;11(8):971-9.
  • The annotation has been inferred from sequence orthology with NKX2-1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Breedveld GJ, etal., Hum Mol Genet. 2002 Apr 15;11(8):971-9.
  • 1 RGD objects have been annotated to Benign Familial Chorea  (DOID:9003905)
  • 20 papers in RGD have been used to annotate Nkx2-1
  • Curation Notes: DNA:missense mutations:exon:p.W238L (713G>T), p.R243S (727C>A) (human)


    • An association has been curated linking Nkx2-1 and Benign Familial Chorea in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Konishi T, etal., J Neurol. 2013 Jan;260(1):207-13. doi: 10.1007/s00415-012-6618-z. Epub 2012 Jul 24.
  • The annotation has been inferred from sequence orthology with NKX2-1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Konishi T, etal., J Neurol. 2013 Jan;260(1):207-13. doi: 10.1007/s00415-012-6618-z. Epub 2012 Jul 24.
  • 1 RGD objects have been annotated to Benign Familial Chorea  (DOID:9003905)
  • 20 papers in RGD have been used to annotate Nkx2-1
  • Curation Notes: DNA:splice-site mutation:intron:c.464-9C>A (human)


    • An association has been curated linking Nkx2-1 and Benign Familial Chorea in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Ferrara AM, etal., Thyroid. 2008 Sep;18(9):1005-9. doi: 10.1089/thy.2008.0085.
  • The annotation has been inferred from sequence orthology with NKX2-1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Ferrara AM, etal., Thyroid. 2008 Sep;18(9):1005-9. doi: 10.1089/thy.2008.0085.
  • 1 RGD objects have been annotated to Benign Familial Chorea  (DOID:9003905)
  • 20 papers in RGD have been used to annotate Nkx2-1
  • Curation Notes: DNA:nonsense mutation:exon 2:p.S145X (c.609C>A) (human)


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