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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking PLA2G6 and Cerebellar atrophy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Wu Y, etal., Eur J Neurol. 2009 Feb;16(2):240-5. Epub 2008 Dec 9.
  • 7 additional annotations were made from Wu Y, etal., Eur J Neurol. 2009 Feb;16(2):240-5. Epub 2008 Dec 9.
  • 450 RGD objects have been annotated to Cerebellar atrophy  (HP:0001272)
  • 20 papers in RGD have been used to annotate PLA2G6
  • Curation Notes: DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple


    • An association has been curated linking PLA2G6 and Cerebellar atrophy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Khateeb S, etal., Am J Hum Genet. 2006 Nov;79(5):942-8. Epub 2006 Sep 19.
  • 8 additional annotations were made from Khateeb S, etal., Am J Hum Genet. 2006 Nov;79(5):942-8. Epub 2006 Sep 19.
  • 450 RGD objects have been annotated to Cerebellar atrophy  (HP:0001272)
  • 20 papers in RGD have been used to annotate PLA2G6
  • Curation Notes: DNA:deletion:cds:p.V691del


    • An association has been curated linking PLA2G6 and Cerebellar atrophy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 450 RGD objects have been annotated to Cerebellar atrophy  (HP:0001272)
  • 20 papers in RGD have been used to annotate PLA2G6
  • Original References(s): OMIM:610217


    • An association has been curated linking PLA2G6 and Cerebellar atrophy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 450 RGD objects have been annotated to Cerebellar atrophy  (HP:0001272)
  • 20 papers in RGD have been used to annotate PLA2G6
  • Original References(s): ORPHA:35069


    • An association has been curated linking PLA2G6 and Cerebellar atrophy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 450 RGD objects have been annotated to Cerebellar atrophy  (HP:0001272)
  • 20 papers in RGD have been used to annotate PLA2G6
  • Original References(s): OMIM:256600


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