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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Ryr1 and Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay 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]
  • 2 RGD objects have been annotated to Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  (DOID:9007052)
  • 14 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Myopathy, progressive axial with cataracts
  • 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


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