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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking RYR1 and rigid spine muscular dystrophy 1 in Sus scrofa.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Automated assignment of GO, PW and RDO ISS annotations to Chinchilla, Squirrel, Bonobo and/or Dog genes from Human gene annotations
  • The annotation has been inferred from sequence orthology with RGD:9683763 (Homo sapiens)
  • 4 RGD objects have been annotated to rigid spine muscular dystrophy 1  (DOID:0110633)
  • 0 papers in RGD have been used to annotate RYR1
  • Curation Notes: ClinVar Annotator: match by term: Multi-minicore disease and atypical periodic paralysis
  • Original References(s): PMID:17033962 PMID:18414213 PMID:20080402 PMID:20583297 PMID:21911697 PMID:22473935 PMID:23553787 PMID:23919265 PMID:24033266 PMID:24088041 PMID:24195946 PMID:24951453 PMID:25476234 PMID:25741868 PMID:26633545 PMID:28492532 PMID:31680349


  • An association has been curated linking RYR1 and rigid spine muscular dystrophy 1 in Sus scrofa.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Automated assignment of GO, PW and RDO ISS annotations to Chinchilla, Squirrel, Bonobo and/or Dog genes from Human gene annotations
  • The annotation has been inferred from sequence orthology with RGD:8688952 (Homo sapiens)
  • 4 RGD objects have been annotated to rigid spine muscular dystrophy 1  (DOID:0110633)
  • 0 papers in RGD have been used to annotate RYR1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore/minicore/multicore disease
  • Original References(s): PMID:18414213 PMID:21674524 PMID:24195946 PMID:24950660 PMID:25214167 PMID:25658027 PMID:25735680 PMID:25741868 PMID:25958340 PMID:25960145 PMID:28492532 PMID:30611313


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