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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Slc17a5 and Free Sialic Acid Storage 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 SLC17A5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Free Sialic Acid Storage Disease  (DOID:9000742)
  • 10 papers in RGD have been used to annotate Slc17a5
  • Curation Notes: ClinVar Annotator: match by term: N-acetylneuraminic acid (NANA) storage disease (NSD)
  • Original References(s): PMID:10069709 PMID:10546100 PMID:10581036 PMID:10947946 PMID:11992753 PMID:12121352 PMID:12359136 PMID:12709150 PMID:12794687 PMID:12794688 PMID:15172001 PMID:15510212 PMID:15516337 PMID:15805149 PMID:16170568 PMID:16199547 PMID:18399798 PMID:18695252 PMID:19557856 PMID:2010546 PMID:20301643 PMID:21781115 PMID:2334213 PMID:24767253 PMID:24993898 PMID:25741868 PMID:25741915 PMID:27848944 PMID:28492532 PMID:28662915 PMID:29140481 PMID:31130284 PMID:34979677 PMID:35322241


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