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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Lamc2 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 LAMC2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to junctional epidermolysis bullosa Herlitz type  (DOID:0060737)
  • 16 papers in RGD have been used to annotate Lamc2
  • Curation Notes: ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz
  • Original References(s): PMID:11231327 PMID:11564184 PMID:11907499 PMID:15373767 PMID:16199547 PMID:16473856 PMID:17916201 PMID:25741868 PMID:27696112 PMID:28492532 PMID:31395954 PMID:7849725 PMID:8012114 PMID:8012393 PMID:8012394 PMID:8824879 PMID:8983017 PMID:9085255


  • An association has been curated linking Lamc2 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 Lamc2 (Mus musculus) [(IEA) inferred from electronic annotation]
  • 4 RGD objects have been annotated to junctional epidermolysis bullosa Herlitz type  (DOID:0060737)
  • 16 papers in RGD have been used to annotate Lamc2
  • Curation Notes: OMIM:226700


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