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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Lama3 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 Lama3 (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)
  • 11 papers in RGD have been used to annotate Lama3
  • Curation Notes: OMIM:226650


    • An association has been curated linking Lama3 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 LAMA3 (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)
  • 11 papers in RGD have been used to annotate Lama3
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis, disentis type | ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
  • Original References(s): PMID:10366601 PMID:11810295 PMID:12915477 PMID:16473856 PMID:17362460 PMID:22434185 PMID:23869449 PMID:24033266 PMID:25363238 PMID:25741868 PMID:27827380 PMID:28087116 PMID:28492532


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