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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking RYR1 and caudal regression syndrome in Pan paniscus.        

  • 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]
  • 6 RGD objects have been annotated to caudal regression syndrome  (DOID:0080700)
  • 0 papers in RGD have been used to annotate RYR1
  • Curation Notes: ClinVar Annotator: match by term: Agenesis of sacrum
  • Original References(s): PMID:10484775 PMID:11575529 PMID:12059893 PMID:12220451 PMID:12434264 PMID:16084090 PMID:16835904 PMID:16917943 PMID:18564 PMID:19648156 PMID:19919814 PMID:21118704 PMID:21514828 PMID:23558838 PMID:23919265 PMID:24033266 PMID:24433488 PMID:25558065 PMID:25741868 PMID:25960145 PMID:27586648 PMID:28492532 PMID:30236257 PMID:31206373 PMID:9497245


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