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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Lamb3 and junctional epidermolysis bullosa in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Pulkkinen L, etal., Genomics. 1994 Nov 15;24(2):357-60.
  • The annotation has been inferred from sequence orthology with LAMB3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Pulkkinen L, etal., Genomics. 1994 Nov 15;24(2):357-60.
  • 9 RGD objects have been annotated to junctional epidermolysis bullosa  (DOID:3209)
  • 12 papers in RGD have been used to annotate Lamb3
  • Qualifier: susceptibility
  • Curation Notes: DNA:nonsense mutation


  • An association has been curated linking Lamb3 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 CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with LAMB3 (Homo sapiens) [(EXP) inferred from experiment]
  • 9 RGD objects have been annotated to junctional epidermolysis bullosa  (DOID:3209)
  • 12 papers in RGD have been used to annotate Lamb3
  • Curation Notes: CTD Direct Evidence: marker/mechanism


  • An association has been curated linking Lamb3 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 LAMB3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 9 RGD objects have been annotated to junctional epidermolysis bullosa  (DOID:3209)
  • 12 papers in RGD have been used to annotate Lamb3
  • Curation Notes: ClinVar Annotator: match by term: Junctional epidermolysis bullosa
  • Original References(s): PMID:10577906 PMID:11023379 PMID:11296269 PMID:11298117 PMID:11451332 PMID:11689492 PMID:11810295 PMID:12813757 PMID:15311214 PMID:15373767 PMID:15538630 PMID:15663509 PMID:16199547 PMID:16473856 PMID:17476356 PMID:17576681 PMID:17916201 PMID:19369679 PMID:20301304 PMID:20574443 PMID:21801158 PMID:22931927 PMID:24033266 PMID:24617447 PMID:24947307 PMID:25525159 PMID:25708563 PMID:25741868 PMID:25950805 PMID:27062385 PMID:27375110 PMID:27480391 PMID:28087116 PMID:28492532 PMID:28561256 PMID:28830826 PMID:29334134 PMID:29900604 PMID:30046887 PMID:32484238 PMID:33274474 PMID:34231856 PMID:36246619 PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 PMID:9038345 PMID:9205497 PMID:9242513 PMID:9326326 PMID:9501007 PMID:9536098 PMID:9690563 PMID:9767254 PMID:9856855


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