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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Speg and centronuclear myopathy 5 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with SPEG (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to centronuclear myopathy 5  (DOID:0111222)
  • 6 papers in RGD have been used to annotate Speg


    • An association has been curated linking Speg and centronuclear myopathy 5 in Rattus norvegicus.        

  • 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 SPEG (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to centronuclear myopathy 5  (DOID:0111222)
  • 6 papers in RGD have been used to annotate Speg
  • Curation Notes: ClinVar Annotator: match by term: Myopathy, centronuclear, 5 | ClinVar Annotator: match by term: SPEG-related condition | ClinVar Annotator: match by term: SPEG-related congenital myopathy
  • Original References(s): PMID:19118250 PMID:25087613 PMID:25741868 PMID:28492532 PMID:29614691 PMID:36474027


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