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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Otc and Hyperammonemia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Tuchman M, etal., Hum Mutat. 2002 Feb;19(2):93-107.
  • The annotation has been inferred from sequence orthology with OTC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Tuchman M, etal., Hum Mutat. 2002 Feb;19(2):93-107.
  • 59 RGD objects have been annotated to Hyperammonemia  (DOID:9008972)
  • 45 papers in RGD have been used to annotate Otc
  • Curation Notes: DNA:missense mutations:multiple (human)


    • An association has been curated linking Otc and Hyperammonemia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Oppliger Leibundgut EO, etal., Hum Mutat. 1996;8(4):333-9.
  • The annotation has been inferred from sequence orthology with OTC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Oppliger Leibundgut EO, etal., Hum Mutat. 1996;8(4):333-9.
  • 59 RGD objects have been annotated to Hyperammonemia  (DOID:9008972)
  • 45 papers in RGD have been used to annotate Otc
  • Curation Notes: DNA:missense mutations:multiple (human)


    • An association has been curated linking Otc and Hyperammonemia in Rattus norvegicus.        

  • 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 OTC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 59 RGD objects have been annotated to Hyperammonemia  (DOID:9008972)
  • 45 papers in RGD have been used to annotate Otc
  • Curation Notes: ClinVar Annotator: match by term: Hyperammonaemia | ClinVar Annotator: match by term: Hyperammonemia
  • Original References(s): PMID:17613537 PMID:18204299 PMID:18440262 PMID:25637381 PMID:25741868 PMID:28492532 PMID:33489762 PMID:34014569 PMID:8807340


    • An association has been curated linking Otc and Hyperammonemia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with OTC (Homo sapiens) [(EXP) inferred from experiment]
  • 59 RGD objects have been annotated to Hyperammonemia  (DOID:9008972)
  • 45 papers in RGD have been used to annotate Otc
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:6825366 PMID:8424807 PMID:8562862 PMID:8581365 PMID:8778603 PMID:9598692 PMID:10227223 PMID:11286510 PMID:19669271 PMID:20406775


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