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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Slc6a19 and Hartnup disease in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Kleta R, etal., Nat Genet. 2004 Sep;36(9):999-1002. Epub 2004 Aug 1.
  • The annotation has been inferred from sequence orthology with RGD:1555608 [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Hartnup disease  (DOID:1060)
  • 8 papers in RGD have been used to annotate Slc6a19
  • Qualifier: susceptibility
  • Curation Notes: DNA:mutations


    • An association has been curated linking Slc6a19 and Hartnup disease in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with SLC6A19 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Hartnup disease  (DOID:1060)
  • 8 papers in RGD have been used to annotate Slc6a19


    • An association has been curated linking Slc6a19 and Hartnup disease 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 SLC6A19 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Hartnup disease  (DOID:1060)
  • 8 papers in RGD have been used to annotate Slc6a19
  • Curation Notes: ClinVar Annotator: match by term: Hartnup disorder | ClinVar Annotator: match by term: Neutral 1 amino acid transport defect
  • Original References(s): PMID:15286787 PMID:15286788 PMID:16199547 PMID:17555458 PMID:17576681 PMID:18484095 PMID:19033659 PMID:19185582 PMID:19472175 PMID:20399395 PMID:21814048 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28924877 PMID:30626930 PMID:35606766 PMID:9536098


    • An association has been curated linking Slc6a19 and Hartnup disease in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Slc6a19 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Hartnup disease  (DOID:1060)
  • 8 papers in RGD have been used to annotate Slc6a19
  • Curation Notes: OMIM:234500


    • An association has been curated linking Slc6a19 and Hartnup disease 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 SLC6A19 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to Hartnup disease  (DOID:1060)
  • 8 papers in RGD have been used to annotate Slc6a19
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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