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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking NOG and proximal symphalangism in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Gong Y, etal., Nat Genet. 1999 Mar;21(3):302-4.
  • 5 additional annotations were made from Gong Y, etal., Nat Genet. 1999 Mar;21(3):302-4.
  • 8 RGD objects have been annotated to proximal symphalangism  (DOID:0050788)
  • 32 papers in RGD have been used to annotate NOG


    • An association has been curated linking NOG and proximal symphalangism in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Liu F, etal., Clin Chim Acta. 2014 Feb 15;429:129-33. doi: 10.1016/j.cca.2013.12.004. Epub 2013 Dec 8.
  • 2 additional annotations were made from Liu F, etal., Clin Chim Acta. 2014 Feb 15;429:129-33. doi: 10.1016/j.cca.2013.12.004. Epub 2013 Dec 8.
  • 8 RGD objects have been annotated to proximal symphalangism  (DOID:0050788)
  • 32 papers in RGD have been used to annotate NOG
  • Curation Notes: DNA:missense mutation:cds:c.499C>T(p.R167C)human


    • An association has been curated linking NOG and proximal symphalangism in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Takahashi T, etal., Clin Genet. 2001 Dec;60(6):447-51.
  • 2 additional annotations were made from Takahashi T, etal., Clin Genet. 2001 Dec;60(6):447-51.
  • 8 RGD objects have been annotated to proximal symphalangism  (DOID:0050788)
  • 32 papers in RGD have been used to annotate NOG
  • Curation Notes: DNA:mutations:cds:g.551G>A (p.C184Y),g.386T>A (p.L129X),g.58delC(human)


    • An association has been curated linking NOG and proximal symphalangism in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 8 RGD objects have been annotated to proximal symphalangism  (DOID:0050788)
  • 32 papers in RGD have been used to annotate NOG
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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