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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Exph5 and Epidermolysis Bullosa Simplex 4, Localized or Generalized Intermediate, Autosomal Recessive in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with EXPH5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Epidermolysis Bullosa Simplex 4, Localized or Generalized Intermediate, Autosomal Recessive  (DOID:9008927)
  • 4 papers in RGD have been used to annotate Exph5


    • An association has been curated linking Exph5 and Epidermolysis Bullosa Simplex 4, Localized or Generalized Intermediate, Autosomal Recessive 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 EXPH5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Epidermolysis Bullosa Simplex 4, Localized or Generalized Intermediate, Autosomal Recessive  (DOID:9008927)
  • 4 papers in RGD have been used to annotate Exph5
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive
  • Original References(s): PMID:23176819 PMID:24005056 PMID:24443915 PMID:25741868 PMID:26211931 PMID:27384765 PMID:27730671 PMID:28492532 PMID:28830826 PMID:30016581 PMID:32176379


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