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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Vps28 and epidermolysis bullosa simplex with muscular dystrophy 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 VPS28 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 28 RGD objects have been annotated to epidermolysis bullosa simplex with muscular dystrophy  (DOID:0090017)
  • 6 papers in RGD have been used to annotate Vps28
  • Curation Notes: ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-21 05:55:54.0 by RGD . For more information contact us

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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.