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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking BOP1 and epidermolysis bullosa simplex with muscular dystrophy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:151869771 (Homo sapiens)
  • 78 RGD objects have been annotated to epidermolysis bullosa simplex with muscular dystrophy  (DOID:0090017)
  • 4 papers in RGD have been used to annotate BOP1
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy
  • Original References(s): PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526


    • An association has been curated linking BOP1 and epidermolysis bullosa simplex with muscular dystrophy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:14713333|RGD:151851839 (Homo sapiens) & RGD:14713333|RGD:151851839 (Homo sapiens)
  • 78 RGD objects have been annotated to epidermolysis bullosa simplex with muscular dystrophy  (DOID:0090017)
  • 4 papers in RGD have been used to annotate BOP1
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy
  • Original References(s): PMID:28492532


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