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GENE - TERM ANNOTATION REPORT

116 Annotations Found.

An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore myopathy
  • Original References(s): PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore myopathy
  • Original References(s): PMID:24195946 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore myopathy
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore myopathy
  • Original References(s): PMID:18414213 PMID:25741868 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore myopathy
  • Original References(s): PMID:16917943 PMID:18414213 PMID:24195946 PMID:25741868 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore myopathy
  • Original References(s): PMID:20142353 PMID:21965348 PMID:24033266 PMID:24195946 PMID:25637381 PMID:25741868 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore myopathy
  • Original References(s): PMID:16917943 PMID:18414213 PMID:25741868 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore myopathy
  • Original References(s): PMID:16917943 PMID:25741868 PMID:26467025 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore myopathy
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by OMIM:255320
  • Original References(s): PMID:25476234


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore Disease


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore Disease
  • Original References(s): PMID:16917943 PMID:18414213 PMID:24033266 PMID:25741868


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by OMIM:255320
  • Original References(s): PMID:16380615


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by OMIM:255320
  • Original References(s): PMID:18253926


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by OMIM:255320
  • Original References(s): PMID:12719381


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore myopathy
  • Original References(s): PMID:24195946 PMID:25741868 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
  • Original References(s): PMID:20583297 PMID:23919265 PMID:25741868 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Minicore myopathy
  • Original References(s): PMID:15221887 PMID:16084090 PMID:16917943 PMID:19191333 PMID:19825159 PMID:23329375 PMID:23558838 PMID:23826317 PMID:24033266 PMID:24195946 PMID:24433488 PMID:25741868 PMID:25960145 PMID:28224104 PMID:28492532 PMID:30236257 PMID:30611313 PMID:30788618


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
  • Original References(s): PMID:16835904 PMID:24013571 PMID:25741868 PMID:28492532 PMID:30236257


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore Disease
  • Original References(s): PMID:16835904 PMID:16917943 PMID:18414213 PMID:24033266 PMID:25741868


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore Disease
  • Original References(s): PMID:18414213 PMID:24033266 PMID:25741868


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia
  • 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


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore myopathy
  • Original References(s): PMID:18414213 PMID:19513315 PMID:25741868 PMID:25960145 PMID:26467025 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore myopathy
  • Original References(s): PMID:19191333 PMID:25741868 PMID:26467025 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
  • Original References(s): PMID:16084090 PMID:25741868 PMID:25960145 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
  • Original References(s): PMID:16084090 PMID:25741868 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore Disease
  • Original References(s): PMID:25741868


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore Disease
  • Original References(s): PMID:16917943


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore Disease
  • Original References(s): PMID:18414213 PMID:25741868


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore myopathy
  • Original References(s): PMID:16917943 PMID:25741868 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore Disease
  • Original References(s): PMID:16917943 PMID:18414213 PMID:25741868


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore myopathy
  • Original References(s): PMID:16084090 PMID:20839240 PMID:28492532 PMID:30724636


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore myopathy
  • Original References(s): PMID:23919265 PMID:25741868 PMID:26841830 PMID:27066551 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia
  • Original References(s): PMID:12136074 PMID:15731587 PMID:16084090 PMID:16372898 PMID:16917943 PMID:17226826 PMID:17483490 PMID:18253926 PMID:19346234 PMID:19648156 PMID:21455645 PMID:21965348 PMID:22473935 PMID:22992668 PMID:23329375 PMID:23558838 PMID:24433488 PMID:25741868 PMID:25960145 PMID:27382027 PMID:27663056 PMID:28326467 PMID:28403410 PMID:28492532 PMID:28527222 PMID:28818389 PMID:29635721


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia
  • Original References(s): PMID:22473935 PMID:25683120 PMID:25741868 PMID:28492532 PMID:28818389


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia
  • Original References(s): PMID:20583297 PMID:23919265 PMID:25741868 PMID:25957634 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore myopathy
  • Original References(s): PMID:24033266 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore myopathy
  • Original References(s): PMID:22473935 PMID:25741868 PMID:26467025 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore myopathy
  • Original References(s): PMID:16917943 PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore myopathy
  • Original References(s): PMID:18414213 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Minicore myopathy
  • Original References(s): PMID:16084090 PMID:16917943 PMID:19191329 PMID:23558838 PMID:24033266 PMID:24195946 PMID:25741868 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia
  • Original References(s): PMID:16084090 PMID:25658027 PMID:25741868 PMID:27857962 PMID:28492532 PMID:30236257


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia
  • Original References(s): PMID:25741868 PMID:25960145 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia
  • Original References(s): PMID:18414213 PMID:18564801 PMID:20681998 PMID:21674524 PMID:22473935 PMID:23558838 PMID:24195946 PMID:24950660 PMID:25214167 PMID:25658027 PMID:25735680 PMID:25741868 PMID:25958340 PMID:25960145 PMID:28492532 PMID:30611313


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
  • Original References(s): PMID:12208234 PMID:12411788 PMID:16163667 PMID:23558838 PMID:24033266 PMID:25637381 PMID:25741868 PMID:25957634 PMID:28492532 PMID:28687594 PMID:29169929 PMID:30236257


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore myopathy
  • Original References(s): PMID:22473935 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Minicore myopathy
  • Original References(s): PMID:25326635 PMID:25741868


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore Disease
  • Original References(s): PMID:16917943 PMID:18414213 PMID:19513315 PMID:24033266 PMID:25741868


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
  • Original References(s): PMID:12059893 PMID:12434264 PMID:16084090 PMID:16163667 PMID:16272262 PMID:17710899 PMID:22992668 PMID:28492532 PMID:30236257


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore Disease
  • Original References(s): PMID:16917943 PMID:16940308 PMID:17365175 PMID:18414213 PMID:24033266 PMID:24195946 PMID:25741868


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia
  • Original References(s): PMID:20839240 PMID:25741868 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore myopathy
  • Original References(s): PMID:19513315 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore myopathy
  • Original References(s): PMID:18414213 PMID:20839240 PMID:24033266 PMID:25741868 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Minicore myopathy
  • Original References(s): PMID:16084090 PMID:17226826 PMID:18253926 PMID:18414213 PMID:23069638 PMID:25637381 PMID:25741868 PMID:25747005 PMID:26332594 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore myopathy
  • Original References(s): PMID:16084090 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia
  • Original References(s): PMID:18253926 PMID:20839240 PMID:21062345 PMID:23553484 PMID:25741868 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore myopathy
  • Original References(s): PMID:22473935 PMID:23394784 PMID:24055113 PMID:25637381 PMID:25741868 PMID:26332594 PMID:28492532 PMID:30122538 PMID:30325262


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore myopathy
  • Original References(s): PMID:21514828 PMID:21965348 PMID:22705209 PMID:23204524 PMID:24033266 PMID:24195946 PMID:25461839 PMID:25741868 PMID:25960145 PMID:26467025 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore myopathy
  • Original References(s): PMID:16732084 PMID:21455645 PMID:24195946 PMID:25741868 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore myopathy
  • Original References(s): PMID:16917943 PMID:25637381 PMID:25741868 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore myopathy
  • Original References(s): PMID:19346234 PMID:20142353 PMID:22473935 PMID:23329375 PMID:23628358 PMID:24195946 PMID:24433488 PMID:25637381 PMID:25658027 PMID:25735680 PMID:25741868 PMID:25985138 PMID:26332594 PMID:26467025 PMID:27147545 PMID:27153395 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore myopathy
  • Original References(s): PMID:20583297 PMID:20839240 PMID:23919265 PMID:25741868 PMID:28492532 PMID:28818389


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore Disease
  • Original References(s): PMID:16917943 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
  • Original References(s): PMID:16084090 PMID:25741868 PMID:27005958 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore myopathy
  • Original References(s): PMID:16917943 PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
  • Original References(s): PMID:25326635 PMID:25741868 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
  • Original References(s): PMID:25741868 PMID:28492532 PMID:29178655 PMID:31135626


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia
  • Original References(s): PMID:10484775 PMID:11575529 PMID:11668625 PMID:12059893 PMID:12411786 PMID:12434264 PMID:12709367 PMID:15448513 PMID:16084090 PMID:16163667 PMID:16244001 PMID:16917943 PMID:17710899 PMID:19191333 PMID:19648156 PMID:20681998 PMID:21455645 PMID:22992668 PMID:23558838 PMID:24433488 PMID:25466363 PMID:25735680 PMID:25741868 PMID:25989378 PMID:28492532 PMID:9497245


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Minicore myopathy
  • Original References(s): PMID:20681998


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
  • Original References(s): PMID:25741868 PMID:28492532 PMID:29382405


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
  • Original References(s): PMID:10097181 PMID:11274444 PMID:11709545 PMID:11741831 PMID:12642598 PMID:15175001 PMID:16084090 PMID:16621918 PMID:17081152 PMID:20888934 PMID:21825032 PMID:22203976 PMID:22992668 PMID:24561095 PMID:25084811 PMID:25741868 PMID:25989378 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
  • Original References(s): PMID:19191333 PMID:25741868 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia
  • Original References(s): PMID:16084090 PMID:17033962 PMID:1743490 PMID:17483490 PMID:21062345 PMID:22473935 PMID:23919265 PMID:24088041 PMID:25741868 PMID:26633545 PMID:28492532 PMID:29172004 PMID:30155738 PMID:31055738


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
  • Original References(s): PMID:19807743 PMID:25741868 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia
  • Original References(s): PMID:12123492 PMID:15210166 PMID:16917943 PMID:19648156 PMID:22992668 PMID:23558838 PMID:24361844 PMID:25256590 PMID:25741868 PMID:28403410 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore myopathy
  • Original References(s): PMID:16372898 PMID:25741868 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore myopathy
  • Original References(s): PMID:16917943 PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
  • Original References(s): PMID:22734812 PMID:25741868 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Minicore myopathy
  • Original References(s): PMID:25960145


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia
  • Original References(s): PMID:22415532 PMID:25741868


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
  • Original References(s): PMID:19807743 PMID:23476141 PMID:25637381 PMID:26332594 PMID:28403410 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
  • Original References(s): PMID:16835904 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Minicore myopathy
  • Original References(s): PMID:24033266


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Minicore myopathy
  • Original References(s): PMID:17483490 PMID:19191329 PMID:19645060 PMID:21062345 PMID:21795085 PMID:23553787 PMID:23919265 PMID:24091937 PMID:25741868 PMID:28492532 PMID:30611313


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia
  • Original References(s): PMID:16084090 PMID:16380615 PMID:16940308 PMID:18171678 PMID:18414213 PMID:22473935 PMID:23553787 PMID:24195946 PMID:25637381 PMID:25741868 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia
  • Original References(s): PMID:19191329 PMID:21795085 PMID:24195946 PMID:25741868 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
  • Original References(s): PMID:20681998 PMID:25741868 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
  • Original References(s): PMID:16084090 PMID:16732084 PMID:16917943 PMID:19223216 PMID:19931341 PMID:23476141 PMID:24033266 PMID:25741868 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
  • Original References(s): PMID:16084090 PMID:21455645 PMID:23460944 PMID:24195946 PMID:25741868 PMID:27555149 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
  • Original References(s): PMID:14732627 PMID:16163667 PMID:18414213 PMID:19191329 PMID:20839240 PMID:20981092 PMID:22913516 PMID:22995991 PMID:23204524 PMID:24195946 PMID:25735680 PMID:25741868 PMID:26467025 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
  • Original References(s): PMID:16917943 PMID:23329375 PMID:23558838 PMID:24195946 PMID:25741868 PMID:25957634 PMID:26467025 PMID:27153395 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Minicore myopathy
  • Original References(s): PMID:24195946


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Minicore myopathy
  • Original References(s): PMID:18414213 PMID:23035052 PMID:25741868


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Minicore myopathy
  • Original References(s): PMID:15731587 PMID:19191333 PMID:24433488


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Minicore myopathy
  • Original References(s): PMID:18414213 PMID:19807743 PMID:23476141 PMID:25741868 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
  • Original References(s): PMID:16084090 PMID:18564801 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia
  • Original References(s): PMID:16380615 PMID:17033962 PMID:17365175 PMID:17483490 PMID:18253 PMID:25741868 PMID:7299413


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia
  • Original References(s): PMID:16084090 PMID:16380615 PMID:16940 PMID:16940308 PMID:17033962 PMID:17483490 PMID:18171678 PMID:18414213 PMID:23826317 PMID:25741868 PMID:28357410 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Minicore myopathy
  • Original References(s): PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Minicore myopathy
  • Original References(s): PMID:21674524 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30325262 PMID:31559918


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia
  • Original References(s): PMID:16917943 PMID:18414213 PMID:21911697 PMID:24195946 PMID:25741868 PMID:26467025 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Minicore myopathy
  • Original References(s): PMID:19191333 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30325262


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore myopathy
  • Original References(s): PMID:19346234 PMID:23035052 PMID:25741868 PMID:26467025 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia
  • Original References(s): PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore myopathy
  • Original References(s): PMID:16917943 PMID:18414213 PMID:24033266 PMID:24195946 PMID:25741868 PMID:26467025 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia
  • Original References(s): PMID:19513315 PMID:21157159 PMID:22473935 PMID:23628358 PMID:25658027 PMID:25741868 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Minicore myopathy
  • Original References(s): PMID:10888602 PMID:15731587 PMID:16732084 PMID:17538032 PMID:18414213 PMID:18719443 PMID:19191333 PMID:23183335 PMID:24195946 PMID:25741868 PMID:26467025 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia
  • Original References(s): PMID:16917943 PMID:18414213 PMID:19191333 PMID:25741868 PMID:26467025 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia
  • 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 Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Minicore myopathy
  • Original References(s): PMID:24215330 PMID:25741868 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Minicore myopathy
  • Original References(s): PMID:16084090 PMID:25214167 PMID:25326635 PMID:25741868 PMID:25957634 PMID:28492532 PMID:28818389


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia
  • Original References(s): PMID:25741868 PMID:28166811 PMID:28259615 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia
  • Original References(s): PMID:21674524 PMID:25741868 PMID:28166811 PMID:28492532


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Minicore myopathy
  • Original References(s): PMID:17576681 PMID:28492532 PMID:9536098


  • An association has been curated linking Ryr1 and Minicore Myopathy with External Ophthalmoplegia 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 RYR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Minicore Myopathy with External Ophthalmoplegia  (DOID:9004586)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Minicore myopathy
  • Original References(s): PMID:25741868 PMID:28166811 PMID:28492532


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