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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking APOE and Hypercholesterolemia in Sus scrofa.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
  • The annotation has been inferred from sequence orthology with APOE (Homo sapiens)
  • 135 RGD objects have been annotated to Hypercholesterolemia  (DOID:9000808)
  • 0 papers in RGD have been used to annotate APOE
  • Qualifier: susceptibility
  • Curation Notes: DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human)
  • Original References(s): PMID:17217375 REF_RGD_ID:1601229


    • An association has been curated linking APOE and Hypercholesterolemia in Sus scrofa.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
  • The annotation has been inferred from sequence orthology with APOE (Homo sapiens)
  • 135 RGD objects have been annotated to Hypercholesterolemia  (DOID:9000808)
  • 0 papers in RGD have been used to annotate APOE
  • Qualifier: severity
  • Curation Notes: associated with Kidney Failure, Chronic; DNA:missense mutations, haplotype:cds:p.C130R, p.C176R (human)
  • Original References(s): PMID:21357213 REF_RGD_ID:6903838


    • An association has been curated linking APOE and Hypercholesterolemia in Sus scrofa.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • 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 from sequence orthology with APOE (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 135 RGD objects have been annotated to Hypercholesterolemia  (DOID:9000808)
  • 0 papers in RGD have been used to annotate APOE
  • Curation Notes: ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar Annotator: match by term: Hypercholesterolemia
  • Original References(s): PMID:16103896 PMID:16143024 PMID:17289397 PMID:19667110 PMID:20031551 PMID:20031582 PMID:22992668 PMID:25741868 PMID:2992507 PMID:3243553 PMID:6300187 PMID:9649566


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