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GENE - TERM ANNOTATION REPORT

7 Annotations Found.

An association has been curated linking PARK7 and Parkinson's disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Ariga H, etal., Oxid Med Cell Longev. 2013;2013:683920. doi: 10.1155/2013/683920. Epub 2013 May 16.
  • 5 additional annotations were made from Ariga H, etal., Oxid Med Cell Longev. 2013;2013:683920. doi: 10.1155/2013/683920. Epub 2013 May 16.
  • 416 RGD objects have been annotated to Parkinson's disease  (DOID:14330)
  • 17 papers in RGD have been used to annotate PARK7


    • An association has been curated linking PARK7 and Parkinson's disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Miller DW, etal., J Biol Chem. 2003 Sep 19;278(38):36588-95. Epub 2003 Jul 8.
  • 2 additional annotations were made from Miller DW, etal., J Biol Chem. 2003 Sep 19;278(38):36588-95. Epub 2003 Jul 8.
  • 416 RGD objects have been annotated to Parkinson's disease  (DOID:14330)
  • 17 papers in RGD have been used to annotate PARK7
  • Qualifier: onset
  • Curation Notes: DNA:missense mutation, deletion: :L166P


    • An association has been curated linking PARK7 and Parkinson's disease in Homo sapiens.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Sun J, etal., Neurosci Lett. 2013 Dec 17;557 Pt B:123-8. doi: 10.1016/j.neulet.2013.10.034. Epub 2013 Oct 22.
  • The annotation has been inferred from sequence orthology with Park7 (Rattus norvegicus) [(IMP) inferred from mutant phenotype]
  • 9 additional annotations were made from Sun J, etal., Neurosci Lett. 2013 Dec 17;557 Pt B:123-8. doi: 10.1016/j.neulet.2013.10.034. Epub 2013 Oct 22.
  • 416 RGD objects have been annotated to Parkinson's disease  (DOID:14330)
  • 17 papers in RGD have been used to annotate PARK7


    • An association has been curated linking PARK7 and Parkinson's disease 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
  • 416 RGD objects have been annotated to Parkinson's disease  (DOID:14330)
  • 17 papers in RGD have been used to annotate PARK7
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:15784737 PMID:17010972 PMID:20423725 PMID:20800516 PMID:22043175 PMID:22898350 PMID:23037695 PMID:23792957 PMID:25149416


    • An association has been curated linking PARK7 and Parkinson's disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:11586378 (Homo sapiens)
  • 416 RGD objects have been annotated to Parkinson's disease  (DOID:14330)
  • 17 papers in RGD have been used to annotate PARK7
  • Curation Notes: ClinVar Annotator: match by term: Parkinson Disease, Recessive
  • Original References(s): PMID:25741868


    • An association has been curated linking PARK7 and Parkinson's disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:11581081 (Homo sapiens)
  • 416 RGD objects have been annotated to Parkinson's disease  (DOID:14330)
  • 17 papers in RGD have been used to annotate PARK7
  • Curation Notes: ClinVar Annotator: match by term: Parkinson Disease, Recessive
  • Original References(s): PMID:12953260 PMID:20981092 PMID:25741868 PMID:26467025 PMID:27884173 PMID:28492532


    • An association has been curated linking PARK7 and Parkinson's disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:11592760 (Homo sapiens)
  • 416 RGD objects have been annotated to Parkinson's disease  (DOID:14330)
  • 17 papers in RGD have been used to annotate PARK7
  • Curation Notes: ClinVar Annotator: match by term: Parkinson Disease, Recessive


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