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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking GRINA and epidermolysis bullosa simplex with muscular dystrophy in Chlorocebus sabaeus.        

  • 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 GRINA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 63 RGD objects have been annotated to epidermolysis bullosa simplex with muscular dystrophy  (DOID:0090017)
  • 0 papers in RGD have been used to annotate GRINA
  • 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


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