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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Selenon and congenital myopathy 4A 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 SELENON (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to congenital myopathy 4A  (DOID:0080102)
  • 6 papers in RGD have been used to annotate Selenon
  • Curation Notes: ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders
  • Original References(s): PMID:11079538 PMID:11528383 PMID:12192640 PMID:12207930 PMID:15122708 PMID:15668457 PMID:15792869 PMID:16365872 PMID:17365175 PMID:17951086 PMID:18313359 PMID:18414213 PMID:18713863 PMID:19067361 PMID:20301436 PMID:20623375 PMID:21131290 PMID:21670436 PMID:23394784 PMID:24033266 PMID:24988964 PMID:25182138 PMID:25741868 PMID:26467025 PMID:27447704 PMID:28492532 PMID:28558865 PMID:28688748 PMID:30921636 PMID:30932294 PMID:31127727 PMID:31321302 PMID:32746448 PMID:32796131 PMID:33652732 PMID:7224095


  • An association has been curated linking Selenon and congenital myopathy 4A 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 SELENON (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to congenital myopathy 4A  (DOID:0080102)
  • 6 papers in RGD have been used to annotate Selenon
  • Curation Notes: ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders
  • Original References(s): PMID:11079538 PMID:11528383 PMID:12192640 PMID:12207930 PMID:15122708 PMID:15668457 PMID:15792869 PMID:16365872 PMID:17204937 PMID:17365175 PMID:17951086 PMID:18313359 PMID:18414213 PMID:18713863 PMID:19067361 PMID:20301436 PMID:20623375 PMID:21131290 PMID:21670436 PMID:23394784 PMID:24033266 PMID:24988964 PMID:25182138 PMID:25741868 PMID:26467025 PMID:27447704 PMID:28492532 PMID:28558865 PMID:28688748 PMID:30921636 PMID:30932294 PMID:31127727 PMID:31321302 PMID:32746448 PMID:32796131 PMID:33652732 PMID:7224095


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