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GENE - TERM ANNOTATION REPORT

9 Annotations Found.

An association has been curated linking PTPN22 and type 1 diabetes mellitus 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
  • 1096 RGD objects have been annotated to type 1 diabetes mellitus  (DOID:9744)
  • 57 papers in RGD have been used to annotate PTPN22
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:21190368 PMID:30224649


    • An association has been curated linking PTPN22 and type 1 diabetes mellitus in Homo sapiens.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Fousteri G, etal., Clin Immunol. 2015 Feb;156(2):98-108. doi: 10.1016/j.clim.2014.12.002. Epub 2014 Dec 13.
  • The annotation has been inferred from sequence orthology with Ptpn22 (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Fousteri G, etal., Clin Immunol. 2015 Feb;156(2):98-108. doi: 10.1016/j.clim.2014.12.002. Epub 2014 Dec 13.
  • 1096 RGD objects have been annotated to type 1 diabetes mellitus  (DOID:9744)
  • 57 papers in RGD have been used to annotate PTPN22
  • Qualifier: susceptibility


    • An association has been curated linking PTPN22 and type 1 diabetes mellitus in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Bottini N, etal., Nat Genet. 2004 Apr;36(4):337-8. Epub 2004 Mar 7.
  • 2 additional annotations were made from Bottini N, etal., Nat Genet. 2004 Apr;36(4):337-8. Epub 2004 Mar 7.
  • 1096 RGD objects have been annotated to type 1 diabetes mellitus  (DOID:9744)
  • 57 papers in RGD have been used to annotate PTPN22
  • Curation Notes: DNA: snp: cds: C1858T


    • An association has been curated linking PTPN22 and type 1 diabetes mellitus in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Howson JM, etal., Diabetes. 2011 Oct;60(10):2645-53. Epub 2011 Aug 26.
  • 6 additional annotations were made from Howson JM, etal., Diabetes. 2011 Oct;60(10):2645-53. Epub 2011 Aug 26.
  • 1096 RGD objects have been annotated to type 1 diabetes mellitus  (DOID:9744)
  • 57 papers in RGD have been used to annotate PTPN22
  • Qualifier: onset


    • An association has been curated linking PTPN22 and type 1 diabetes mellitus in Homo sapiens.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Sarmiento J, etal., J Immunol. 2015 Jan 15;194(2):615-29. doi: 10.4049/jimmunol.1302689. Epub 2014 Dec 12.
  • The annotation has been inferred from sequence orthology with Ptpn22 (Rattus norvegicus) [(IAGP) inferred by association of genotype and phenotype]
  • 8 additional annotations were made from Sarmiento J, etal., J Immunol. 2015 Jan 15;194(2):615-29. doi: 10.4049/jimmunol.1302689. Epub 2014 Dec 12.
  • 1096 RGD objects have been annotated to type 1 diabetes mellitus  (DOID:9744)
  • 57 papers in RGD have been used to annotate PTPN22
  • Qualifier: susceptibility
  • Curation Notes: DNA:missense mutation:cds:p.A629T (rat)


    • An association has been curated linking PTPN22 and type 1 diabetes mellitus in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Wang K, etal., Hum Mol Genet. 2010 May 15;19(10):2059-67. doi: 10.1093/hmg/ddq078. Epub 2010 Feb 22.
  • 2 additional annotations were made from Wang K, etal., Hum Mol Genet. 2010 May 15;19(10):2059-67. doi: 10.1093/hmg/ddq078. Epub 2010 Feb 22.
  • 1096 RGD objects have been annotated to type 1 diabetes mellitus  (DOID:9744)
  • 57 papers in RGD have been used to annotate PTPN22
  • Qualifier: susceptibility
  • Curation Notes: DNA:snp:cds:p.R620W (rs2476601) (human)


    • An association has been curated linking PTPN22 and type 1 diabetes mellitus in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 1096 RGD objects have been annotated to type 1 diabetes mellitus  (DOID:9744)
  • 57 papers in RGD have been used to annotate PTPN22
  • Qualifier: susceptibility


    • An association has been curated linking PTPN22 and type 1 diabetes mellitus 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:8560764 (Homo sapiens)
  • 1096 RGD objects have been annotated to type 1 diabetes mellitus  (DOID:9744)
  • 57 papers in RGD have been used to annotate PTPN22
  • Curation Notes: ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, susceptibility to
  • Original References(s): PMID:15004560 PMID:15208781 PMID:15273934 PMID:15580548 PMID:15719322 PMID:15744042 PMID:16273109 PMID:16339849 PMID:16470599 PMID:17170052 PMID:17436241 PMID:17554300 PMID:17878369 PMID:18301444 PMID:18978792 PMID:19265110 PMID:19898480 PMID:21841778 PMID:28492532


    • An association has been curated linking PTPN22 and type 1 diabetes mellitus 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:616936656 (Homo sapiens)
  • 1096 RGD objects have been annotated to type 1 diabetes mellitus  (DOID:9744)
  • 57 papers in RGD have been used to annotate PTPN22
  • Curation Notes: ClinVar Annotator: match by term: Diabetes mellitus type 1
  • Original References(s): PMID:25741868


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