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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Krt5 and Generalized Severe Epidermolysis Bullosa Simplex 1A 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 RGD objects have been annotated to Generalized Severe Epidermolysis Bullosa Simplex 1A  (DOID:9002302)
  • 13 papers in RGD have been used to annotate Krt5
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1A, generalized severe
  • Original References(s): PMID:10354017 PMID:10730767 PMID:16098032 PMID:16439963 PMID:16601668 PMID:16882168 PMID:17549391 PMID:20030639 PMID:20301543 PMID:21375516 PMID:23746086 PMID:25017986 PMID:25741868 PMID:26743602 PMID:28492532 PMID:28561874 PMID:30515866 PMID:31579952 PMID:7520042 PMID:8807337 PMID:9036937


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