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1 Annotations Found.

An association has been curated linking Krt5 and autosomal dominant dystrophic epidermolysis bullosa 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 KRT5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to autosomal dominant dystrophic epidermolysis bullosa  (DOID:0080224)
  • 12 papers in CRRD have been used to annotate Krt5
  • Curation Notes: ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa
  • Original References(s): PMID:25741868, PMID:30311386, PMID:7520042, PMID:8807337

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