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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

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

  • 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 ITGA6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to junctional epidermolysis bullosa with pyloric atresia  (DOID:0060733)
  • 11 papers in RGD have been used to annotate Itga6


    • An association has been curated linking Itga6 and junctional epidermolysis bullosa with pyloric atresia 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]
  • 4 RGD objects have been annotated to junctional epidermolysis bullosa with pyloric atresia  (DOID:0060733)
  • 11 papers in RGD have been used to annotate Itga6
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 6, with pyloric atresia | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia
  • Original References(s): PMID:14675179 PMID:23496044 PMID:25741868 PMID:27607025 PMID:28492532 PMID:9158140 PMID:9185503 PMID:9804362


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