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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking RYR1 and congenital muscular dystrophy in Canis lupus familiaris.        

  • 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]
  • 178 RGD objects have been annotated to congenital muscular dystrophy  (DOID:0050557)
  • 0 papers in RGD have been used to annotate RYR1
  • Curation Notes: ClinVar Annotator: match by term: Congenital muscular dystrophy
  • Original References(s): PMID:18813041 PMID:20301325 PMID:21878807 PMID:21918424 PMID:22473935 PMID:23329375 PMID:23394784 PMID:24055113 PMID:24195946 PMID:24433488 PMID:25637381 PMID:25735680 PMID:25741868 PMID:26332594 PMID:26467025 PMID:27058611 PMID:27147545 PMID:27153395 PMID:28492532


  • An association has been curated linking RYR1 and congenital muscular dystrophy in Canis lupus familiaris.        

  • 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]
  • 178 RGD objects have been annotated to congenital muscular dystrophy  (DOID:0050557)
  • 0 papers in RGD have been used to annotate RYR1
  • Curation Notes: ClinVar Annotator: match by term: Congenital muscular dystrophy
  • Original References(s): PMID:18813041 PMID:20301325 PMID:21878807 PMID:21918424 PMID:22473935 PMID:22851008 PMID:23329375 PMID:23394784 PMID:24055113 PMID:24195946 PMID:24433488 PMID:25637381 PMID:25735680 PMID:25741868 PMID:26332594 PMID:26467025 PMID:27058611 PMID:27147545 PMID:27153395 PMID:28492532 PMID:30155738 PMID:30236257 PMID:30406384 PMID:30842289 PMID:33646171 PMID:33767344 PMID:35428369 PMID:35599849


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