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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking PLA2G6 and Parkinson's disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Yoshino H, etal., Neurology. 2010 Oct 12;75(15):1356-61.
  • 7 additional annotations were made from Yoshino H, etal., Neurology. 2010 Oct 12;75(15):1356-61.
  • 414 RGD objects have been annotated to Parkinson's disease  (DOID:14330)
  • 20 papers in RGD have been used to annotate PLA2G6
  • Qualifier: onset
  • Curation Notes: DNA:missense muations, nonsense mutation: :p.F72L, p.Q452X, p.R635Q (human)


    • An association has been curated linking PLA2G6 and Parkinson's disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Tomiyama H, etal., J Hum Genet. 2011 May;56(5):401-3. Epub 2011 Mar 3.
  • 3 additional annotations were made from Tomiyama H, etal., J Hum Genet. 2011 May;56(5):401-3. Epub 2011 Mar 3.
  • 414 RGD objects have been annotated to Parkinson's disease  (DOID:14330)
  • 20 papers in RGD have been used to annotate PLA2G6
  • Qualifier: no_association
  • Curation Notes: DNA:missense mutation:cds:p.P806R (c.2417C>G) (human)


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