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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Ryr1 and arthrogryposis multiplex congenita 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]
  • 242 RGD objects have been annotated to arthrogryposis multiplex congenita  (DOID:0080954)
  • 38 papers in RGD have been used to annotate Ryr1
  • Curation Notes: ClinVar Annotator: match by term: Arthrogryposis multiplex congenita | ClinVar Annotator: match by term: GuĂ©rin-Stern syndrome | ClinVar Annotator: match by term: Muscular dystrophy and arthrogryposis
  • Original References(s): PMID:20839240 PMID:21911697 PMID:22473935 PMID:22526018 PMID:23394784 PMID:23826317 PMID:24195946 PMID:25658027 PMID:25735680 PMID:25741868 PMID:28492532 PMID:28818389 PMID:30611313 PMID:30652412 PMID:31407473 PMID:31559918 PMID:31680123 PMID:32978841 PMID:34463354 PMID:35548885


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