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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Lama3 and junctional epidermolysis bullosa 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]
  • 4 RGD objects have been annotated to junctional epidermolysis bullosa Herlitz type  (DOID:0060737)
  • 11 papers in RGD have been used to annotate Lama3
  • Curation Notes: ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, GENERALIZED SEVERE | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz
  • Original References(s): PMID:10366601 PMID:11810295 PMID:12915477 PMID:12943669 PMID:15373767 PMID:16199547 PMID:16473856 PMID:16971478 PMID:17362460 PMID:22434185 PMID:23869449 PMID:24033266 PMID:25363238 PMID:25525159 PMID:25741868 PMID:26635394 PMID:27375110 PMID:27827380 PMID:28087116 PMID:28492532 PMID:33274474 PMID:7633458 PMID:8530087 PMID:8618022 PMID:8824879 PMID:8983017


  • An association has been curated linking Lama3 and junctional epidermolysis bullosa 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 (Homo sapiens) [(IEA) inferred from electronic annotation]
  • 4 RGD objects have been annotated to junctional epidermolysis bullosa Herlitz type  (DOID:0060737)
  • 11 papers in RGD have been used to annotate Lama3
  • Curation Notes: OMIM:226700


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