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1 Annotations Found.

An association has been curated linking Pnpla2 and Chanarin-Dorfman syndrome 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 PNPLA2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 22 RGD objects have been annotated to Chanarin-Dorfman syndrome  (DOID:0050729)
  • 6 papers in RGD have been used to annotate Pnpla2
  • Curation Notes: ClinVar Annotator: match by term: Neutral lipid storage myopathy
  • Original References(s): PMID:16199547 PMID:16644682 PMID:17187067 PMID:17576681 PMID:18445597 PMID:19763152 PMID:20307669 PMID:20370797 PMID:21073837 PMID:21170305 PMID:21544567 PMID:22406018 PMID:22832386 PMID:22990388 PMID:23232698 PMID:23449549 PMID:25287355 PMID:25363365 PMID:25741868 PMID:26922712 PMID:27869069 PMID:28391974 PMID:28492532 PMID:28499397 PMID:30738494 PMID:31525260 PMID:32041611 PMID:33569515 PMID:35460704 PMID:9536098

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