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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking PNPLA3 and liver cirrhosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Jiménez-Sousa MÁ, etal., J Clin Virol. 2018 Jun;103:71-74. doi: 10.1016/j.jcv.2018.04.008. Epub 2018 Apr 12.
  • 2 additional annotations were made from Jiménez-Sousa MÁ, etal., J Clin Virol. 2018 Jun;103:71-74. doi: 10.1016/j.jcv.2018.04.008. Epub 2018 Apr 12.
  • 1171 RGD objects have been annotated to liver cirrhosis  (DOID:5082)
  • 13 papers in RGD have been used to annotate PNPLA3
  • Qualifier: disease_progression
  • Curation Notes: associated with Hepatitis C, Chronic;DNA:SNP: :rs738409 (p.I148M) (human)


    • An association has been curated linking PNPLA3 and liver cirrhosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Machado CM, etal., Nutr Metab Cardiovasc Dis. 2019 Sep;29(9):965-971. doi: 10.1016/j.numecd.2019.06.002. Epub 2019 Jun 14.
  • 8 additional annotations were made from Machado CM, etal., Nutr Metab Cardiovasc Dis. 2019 Sep;29(9):965-971. doi: 10.1016/j.numecd.2019.06.002. Epub 2019 Jun 14.
  • 1171 RGD objects have been annotated to liver cirrhosis  (DOID:5082)
  • 13 papers in RGD have been used to annotate PNPLA3
  • Qualifier: severity
  • Curation Notes: associated with type 2 diabetes mellitus;DNA:SNP: :rs738409 (p.I148M) (human)


    • An association has been curated linking PNPLA3 and liver cirrhosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Valenti L, etal., Hepatology. 2010 Oct;52(4):1274-80. doi: 10.1002/hep.23823.
  • 2 additional annotations were made from Valenti L, etal., Hepatology. 2010 Oct;52(4):1274-80. doi: 10.1002/hep.23823.
  • 1171 RGD objects have been annotated to liver cirrhosis  (DOID:5082)
  • 13 papers in RGD have been used to annotate PNPLA3
  • Curation Notes: associated with non-alcoholic fatty liver disease:DNA:SNP: :rs738409 (p.I148M) (human)


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