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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Ak2 and reticular dysgenesis 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 AK2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to reticular dysgenesis  (DOID:0060020)
  • 22 papers in RGD have been used to annotate Ak2


    • An association has been curated linking Ak2 and reticular dysgenesis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Lagresle-Peyrou C, etal., Nat Genet. 2009 Jan;41(1):106-11. doi: 10.1038/ng.278. Epub 2008 Nov 30.
  • The annotation has been inferred from sequence orthology with AK2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Lagresle-Peyrou C, etal., Nat Genet. 2009 Jan;41(1):106-11. doi: 10.1038/ng.278. Epub 2008 Nov 30.
  • 1 RGD objects have been annotated to reticular dysgenesis  (DOID:0060020)
  • 22 papers in RGD have been used to annotate Ak2
  • Curation Notes: DNA:missense,nonsense mutations:cds:


    • An association has been curated linking Ak2 and reticular dysgenesis 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 AK2 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to reticular dysgenesis  (DOID:0060020)
  • 22 papers in RGD have been used to annotate Ak2
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Ak2 and reticular dysgenesis 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 AK2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to reticular dysgenesis  (DOID:0060020)
  • 22 papers in RGD have been used to annotate Ak2
  • Curation Notes: ClinVar Annotator: match by term: Reticular dysgenesis
  • Original References(s): PMID:17576681 PMID:19043416 PMID:19043417 PMID:19414857 PMID:23014587 PMID:23763981 PMID:24033266 PMID:25741868 PMID:26229552 PMID:26997321 PMID:28331055 PMID:28492532 PMID:29270983 PMID:29713328 PMID:30697212 PMID:30778343 PMID:31673062 PMID:32532877 PMID:9536098


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