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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Itga6 and junctional epidermolysis bullosa in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Ruzzi L, etal., J Clin Invest. 1997 Jun 15;99(12):2826-31.
  • The annotation has been inferred from sequence orthology with ITGA6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Ruzzi L, etal., J Clin Invest. 1997 Jun 15;99(12):2826-31.
  • 11 RGD objects have been annotated to junctional epidermolysis bullosa  (DOID:3209)
  • 11 papers in RGD have been used to annotate Itga6
  • Curation Notes: epidermolysis bullosa with pyloric atresia, OMIM:226730


    • An association has been curated linking Itga6 and junctional epidermolysis bullosa in Mus musculus.        

  • 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 ITGA6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 11 RGD objects have been annotated to junctional epidermolysis bullosa  (DOID:3209)
  • 11 papers in RGD have been used to annotate Itga6
  • Curation Notes: ClinVar Annotator: match by term: Junctional epidermolysis bullosa
  • Original References(s): PMID:21357940 PMID:25741868


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