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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Gtpbp1 and Emery-Dreifuss muscular dystrophy in Chinchilla lanigera.        

  • 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 GTPBP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 116 RGD objects have been annotated to Emery-Dreifuss muscular dystrophy  (DOID:11726)
  • 1 papers in RGD have been used to annotate Gtpbp1
  • Curation Notes: ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy
  • Original References(s): PMID:17576681 PMID:28492532 PMID:9536098


    • An association has been curated linking Gtpbp1 and Emery-Dreifuss muscular dystrophy in Chinchilla lanigera.        

  • 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 GTPBP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 116 RGD objects have been annotated to Emery-Dreifuss muscular dystrophy  (DOID:11726)
  • 1 papers in RGD have been used to annotate Gtpbp1
  • Curation Notes: ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy
  • Original References(s): PMID:16783378 PMID:17576681 PMID:18570303 PMID:18799783 PMID:22213678 PMID:25210889 PMID:28492532 PMID:9536098


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