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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking RYR1 and fetal akinesia deformation sequence syndrome 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:15040434 (Homo sapiens)
  • 68 RGD objects have been annotated to fetal akinesia deformation sequence syndrome 1  (DOID:0111377)
  • 23 papers in RGD have been used to annotate RYR1
  • Curation Notes: ClinVar Annotator: match by term: Fetal akinesia sequence
  • Original References(s): PMID:25741868 PMID:28492532 PMID:31680123


    • An association has been curated linking RYR1 and fetal akinesia deformation sequence syndrome 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:9683771 (Homo sapiens)
  • 68 RGD objects have been annotated to fetal akinesia deformation sequence syndrome 1  (DOID:0111377)
  • 23 papers in RGD have been used to annotate RYR1
  • Curation Notes: ClinVar Annotator: match by term: Fetal akinesia sequence
  • Original References(s): PMID:22473935 PMID:25741868 PMID:28492532 PMID:31680123


    • An association has been curated linking RYR1 and fetal akinesia deformation sequence syndrome 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:9686720 (Homo sapiens)
  • 68 RGD objects have been annotated to fetal akinesia deformation sequence syndrome 1  (DOID:0111377)
  • 23 papers in RGD have been used to annotate RYR1
  • Curation Notes: ClinVar Annotator: match by term: Fetal akinesia sequence
  • Original References(s): PMID:20839240 PMID:21911697 PMID:23394784 PMID:25658027 PMID:25735680 PMID:25741868 PMID:28492532 PMID:30652412 PMID:31407473 PMID:31680123 PMID:32978841 PMID:34463354 PMID:35548885


    • An association has been curated linking RYR1 and fetal akinesia deformation sequence syndrome 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:15040426|RGD:15040427|RGD:15040428|RGD:15040429|RGD:15040430|RGD:15040431|RGD:15040432|RGD:15040433 (Homo sapiens) & RGD:15040426|RGD:15040427|RGD:15040428|RGD:15040429|RGD:15040430|RGD:15040431|RGD:15040432|RGD:15040433 (Homo sapiens) & RGD:15040426|RGD:15040427|RGD:15040428|RGD:15040429|RGD:15040430|RGD:15040431|RGD:15040432|RGD:15040433 (Homo sapiens) & RGD:15040426|RGD:15040427|RGD:15040428|RGD:15040429|RGD:15040430|RGD:15040431|RGD:15040432|RGD:15040433 (Homo sapiens) & RGD:15040426|RGD:15040427|RGD:15040428|RGD:15040429|RGD:15040430|RGD:15040431|RGD:15040432|RGD:15040433 (Homo sapiens) & RGD:15040426|RGD:15040427|RGD:15040428|RGD:15040429|RGD:15040430|RGD:15040431|RGD:15040432|RGD:15040433 (Homo sapiens) & RGD:15040426|RGD:15040427|RGD:15040428|RGD:15040429|RGD:15040430|RGD:15040431|RGD:15040432|RGD:15040433 (Homo sapiens) & RGD:15040426|RGD:15040427|RGD:15040428|RGD:15040429|RGD:15040430|RGD:15040431|RGD:15040432|RGD:15040433 (Homo sapiens)
  • 68 RGD objects have been annotated to fetal akinesia deformation sequence syndrome 1  (DOID:0111377)
  • 23 papers in RGD have been used to annotate RYR1
  • Curation Notes: ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
  • Original References(s): PMID:25741868 PMID:31680123


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