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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking NKX2-1 and Benign Familial Chorea in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Breedveld GJ, etal., Hum Mol Genet. 2002 Apr 15;11(8):971-9.
  • 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)
  • 16 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 Rattus norvegicus.        

  • 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)
  • 41 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 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)


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