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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking PLXNB3 and Emery-Dreifuss 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:156439260 (Homo sapiens)
  • 153 RGD objects have been annotated to Emery-Dreifuss muscular dystrophy  (DOID:11726)
  • 3 papers in RGD have been used to annotate PLXNB3
  • Curation Notes: ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy
  • Original References(s): PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:9384614


    • An association has been curated linking PLXNB3 and Emery-Dreifuss 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:14713347|RGD:26906776 (Homo sapiens) & RGD:14713347|RGD:26906776 (Homo sapiens)
  • 153 RGD objects have been annotated to Emery-Dreifuss muscular dystrophy  (DOID:11726)
  • 3 papers in RGD have been used to annotate PLXNB3
  • Curation Notes: ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy
  • Original References(s): PMID:28492532


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