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GENE - TERM ANNOTATION REPORT

15 Annotations Found.

An association has been curated linking DES and myofibrillar myopathy in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 96 RGD objects have been annotated to myofibrillar myopathy  (DOID:0080307)
  • 14 papers in RGD have been used to annotate DES
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:20718792 PMID:30055862


    • An association has been curated linking DES and myofibrillar myopathy 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:8622279 (Homo sapiens)
  • 96 RGD objects have been annotated to myofibrillar myopathy  (DOID:0080307)
  • 14 papers in RGD have been used to annotate DES
  • Curation Notes: ClinVar Annotator: match by term: Myofibrillar myopathy
  • Original References(s): PMID:14711882 PMID:17221859 PMID:21262226 PMID:23051780 PMID:26467025 PMID:27618136 PMID:28492532 PMID:29892087


    • An association has been curated linking DES and myofibrillar myopathy 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:8569371 (Homo sapiens)
  • 96 RGD objects have been annotated to myofibrillar myopathy  (DOID:0080307)
  • 14 papers in RGD have been used to annotate DES
  • Curation Notes: ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant
  • Original References(s): PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532


    • An association has been curated linking DES and myofibrillar myopathy 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:8607090 (Homo sapiens)
  • 96 RGD objects have been annotated to myofibrillar myopathy  (DOID:0080307)
  • 14 papers in RGD have been used to annotate DES
  • Curation Notes: ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant
  • Original References(s): PMID:10905661 PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking DES and myofibrillar myopathy 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:8607080 (Homo sapiens)
  • 96 RGD objects have been annotated to myofibrillar myopathy  (DOID:0080307)
  • 14 papers in RGD have been used to annotate DES
  • Curation Notes: ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant
  • Original References(s): PMID:10905661 PMID:22215463 PMID:23168288 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking DES and myofibrillar myopathy 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:8607083 (Homo sapiens)
  • 96 RGD objects have been annotated to myofibrillar myopathy  (DOID:0080307)
  • 14 papers in RGD have been used to annotate DES
  • Curation Notes: ClinVar Annotator: match by term: Myofibrillar myopathy
  • Original References(s): PMID:14724127 PMID:15477095 PMID:16217025 PMID:16519886 PMID:16828798 PMID:16865695 PMID:17325244 PMID:17626518 PMID:20474083 PMID:21842594 PMID:22215463 PMID:23143191 PMID:23168288 PMID:23806086 PMID:23861362 PMID:24033266 PMID:24088041 PMID:25214167 PMID:25736269 PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking DES and myofibrillar myopathy 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:8607091 (Homo sapiens)
  • 96 RGD objects have been annotated to myofibrillar myopathy  (DOID:0080307)
  • 14 papers in RGD have been used to annotate DES
  • Curation Notes: ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant
  • Original References(s): PMID:20474083 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking DES and myofibrillar myopathy 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:8607070 (Homo sapiens)
  • 96 RGD objects have been annotated to myofibrillar myopathy  (DOID:0080307)
  • 14 papers in RGD have been used to annotate DES
  • Curation Notes: ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant
  • Original References(s): PMID:17325244 PMID:20474083 PMID:20981092 PMID:22337857 PMID:23299917 PMID:23861362 PMID:24033266 PMID:25617006 PMID:25741868 PMID:26467025 PMID:27896284 PMID:28492532


    • An association has been curated linking DES and myofibrillar myopathy 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:9689232 (Homo sapiens)
  • 96 RGD objects have been annotated to myofibrillar myopathy  (DOID:0080307)
  • 14 papers in RGD have been used to annotate DES
  • Curation Notes: ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant
  • Original References(s): PMID:24033266 PMID:25741868 PMID:25928149 PMID:26467025 PMID:28416588 PMID:28492532 PMID:32150461 PMID:33652119


    • An association has been curated linking DES and myofibrillar myopathy 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:9689231 (Homo sapiens)
  • 96 RGD objects have been annotated to myofibrillar myopathy  (DOID:0080307)
  • 14 papers in RGD have been used to annotate DES
  • Curation Notes: ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant
  • Original References(s): PMID:24033266 PMID:25741868 PMID:27697855 PMID:27930701 PMID:28492532 PMID:28798025 PMID:29926427 PMID:30190612 PMID:30847666 PMID:32142595 PMID:32880476


    • An association has been curated linking DES and myofibrillar myopathy 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:11577643 (Homo sapiens)
  • 96 RGD objects have been annotated to myofibrillar myopathy  (DOID:0080307)
  • 14 papers in RGD have been used to annotate DES
  • Curation Notes: ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking DES and myofibrillar myopathy 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:8607073|RGD:8607081|RGD:8607087 (Homo sapiens) & RGD:8607073|RGD:8607081|RGD:8607087 (Homo sapiens) & RGD:8607073|RGD:8607081|RGD:8607087 (Homo sapiens)
  • 96 RGD objects have been annotated to myofibrillar myopathy  (DOID:0080307)
  • 14 papers in RGD have been used to annotate DES
  • Curation Notes: ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant | ClinVar Annotator: match by term: Myofibrillar myopathy
  • Original References(s): PMID:24033266 PMID:25741868 PMID:28492532


    • An association has been curated linking DES and myofibrillar myopathy 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:8569372|RGD:8569373|RGD:8607060|RGD:8607063 (Homo sapiens) & RGD:8569372|RGD:8569373|RGD:8607060|RGD:8607063 (Homo sapiens) & RGD:8569372|RGD:8569373|RGD:8607060|RGD:8607063 (Homo sapiens) & RGD:8569372|RGD:8569373|RGD:8607060|RGD:8607063 (Homo sapiens)
  • 96 RGD objects have been annotated to myofibrillar myopathy  (DOID:0080307)
  • 14 papers in RGD have been used to annotate DES
  • Curation Notes: ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant
  • Original References(s): PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking DES and myofibrillar myopathy 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:10055755|RGD:11583560|RGD:11584873|RGD:11585775|RGD:11586147|RGD:11588948|RGD:11590218|RGD:11644872|RGD:11647127|RGD:11650230|RGD:11665228|RGD:8622269|RGD:8622292 (Homo sapiens) & RGD:10055755|RGD:11583560|RGD:11584873|RGD:11585775|RGD:11586147|RGD:11588948|RGD:11590218|RGD:11644872|RGD:11647127|RGD:11650230|RGD:11665228|RGD:8622269|RGD:8622292 (Homo sapiens) & RGD:10055755|RGD:11583560|RGD:11584873|RGD:11585775|RGD:11586147|RGD:11588948|RGD:11590218|RGD:11644872|RGD:11647127|RGD:11650230|RGD:11665228|RGD:8622269|RGD:8622292 (Homo sapiens) & RGD:10055755|RGD:11583560|RGD:11584873|RGD:11585775|RGD:11586147|RGD:11588948|RGD:11590218|RGD:11644872|RGD:11647127|RGD:11650230|RGD:11665228|RGD:8622269|RGD:8622292 (Homo sapiens) & RGD:10055755|RGD:11583560|RGD:11584873|RGD:11585775|RGD:11586147|RGD:11588948|RGD:11590218|RGD:11644872|RGD:11647127|RGD:11650230|RGD:11665228|RGD:8622269|RGD:8622292 (Homo sapiens) & RGD:10055755|RGD:11583560|RGD:11584873|RGD:11585775|RGD:11586147|RGD:11588948|RGD:11590218|RGD:11644872|RGD:11647127|RGD:11650230|RGD:11665228|RGD:8622269|RGD:8622292 (Homo sapiens) & RGD:10055755|RGD:11583560|RGD:11584873|RGD:11585775|RGD:11586147|RGD:11588948|RGD:11590218|RGD:11644872|RGD:11647127|RGD:11650230|RGD:11665228|RGD:8622269|RGD:8622292 (Homo sapiens) & RGD:10055755|RGD:11583560|RGD:11584873|RGD:11585775|RGD:11586147|RGD:11588948|RGD:11590218|RGD:11644872|RGD:11647127|RGD:11650230|RGD:11665228|RGD:8622269|RGD:8622292 (Homo sapiens) & RGD:10055755|RGD:11583560|RGD:11584873|RGD:11585775|RGD:11586147|RGD:11588948|RGD:11590218|RGD:11644872|RGD:11647127|RGD:11650230|RGD:11665228|RGD:8622269|RGD:8622292 (Homo sapiens) & RGD:10055755|RGD:11583560|RGD:11584873|RGD:11585775|RGD:11586147|RGD:11588948|RGD:11590218|RGD:11644872|RGD:11647127|RGD:11650230|RGD:11665228|RGD:8622269|RGD:8622292 (Homo sapiens) & RGD:10055755|RGD:11583560|RGD:11584873|RGD:11585775|RGD:11586147|RGD:11588948|RGD:11590218|RGD:11644872|RGD:11647127|RGD:11650230|RGD:11665228|RGD:8622269|RGD:8622292 (Homo sapiens) & RGD:10055755|RGD:11583560|RGD:11584873|RGD:11585775|RGD:11586147|RGD:11588948|RGD:11590218|RGD:11644872|RGD:11647127|RGD:11650230|RGD:11665228|RGD:8622269|RGD:8622292 (Homo sapiens) & RGD:10055755|RGD:11583560|RGD:11584873|RGD:11585775|RGD:11586147|RGD:11588948|RGD:11590218|RGD:11644872|RGD:11647127|RGD:11650230|RGD:11665228|RGD:8622269|RGD:8622292 (Homo sapiens)
  • 96 RGD objects have been annotated to myofibrillar myopathy  (DOID:0080307)
  • 14 papers in RGD have been used to annotate DES
  • Curation Notes: ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant | ClinVar Annotator: match by term: Myofibrillar myopathy


    • An association has been curated linking DES and myofibrillar myopathy 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:8607061|RGD:8607076|RGD:8607089 (Homo sapiens) & RGD:8607061|RGD:8607076|RGD:8607089 (Homo sapiens) & RGD:8607061|RGD:8607076|RGD:8607089 (Homo sapiens)
  • 96 RGD objects have been annotated to myofibrillar myopathy  (DOID:0080307)
  • 14 papers in RGD have been used to annotate DES
  • Curation Notes: ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant
  • Original References(s): PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532


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