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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Itgb4 and junctional epidermolysis bullosa non-Herlitz type in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Itgb4 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to junctional epidermolysis bullosa non-Herlitz type  (DOID:0060738)
  • 16 papers in RGD have been used to annotate Itgb4
  • Curation Notes: OMIM:226650


    • An association has been curated linking Itgb4 and junctional epidermolysis bullosa non-Herlitz type 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 ITGB4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to junctional epidermolysis bullosa non-Herlitz type  (DOID:0060738)
  • 16 papers in RGD have been used to annotate Itgb4
  • Curation Notes: ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
  • Original References(s): PMID:25741868 PMID:28492532


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