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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking LOC130064357 and congenital structural myopathy 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:13466051 (Homo sapiens)
  • 189 RGD objects have been annotated to congenital structural myopathy  (DOID:422)
  • 0 papers in RGD have been used to annotate LOC130064357
  • Curation Notes: ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy
  • Original References(s): PMID:25741868 PMID:28492532 PMID:30155738 PMID:32236737


    • An association has been curated linking LOC130064357 and congenital structural myopathy 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:11653016|RGD:13827857|RGD:151812283 (Homo sapiens) & RGD:11653016|RGD:13827857|RGD:151812283 (Homo sapiens) & RGD:11653016|RGD:13827857|RGD:151812283 (Homo sapiens)
  • 189 RGD objects have been annotated to congenital structural myopathy  (DOID:422)
  • 0 papers in RGD have been used to annotate LOC130064357
  • Curation Notes: ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy
  • Original References(s): PMID:25741868 PMID:28492532


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