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GENE - TERM ANNOTATION REPORT

8 Annotations Found.

An association has been curated linking ACTB and Juvenile-Onset Dystonia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 1 RGD objects have been annotated to Juvenile-Onset Dystonia  (DOID:9006985)
  • 16 papers in RGD have been used to annotate ACTB


    • An association has been curated linking ACTB and Juvenile-Onset Dystonia 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:126729957 (Homo sapiens)
  • 1 RGD objects have been annotated to Juvenile-Onset Dystonia  (DOID:9006985)
  • 16 papers in RGD have been used to annotate ACTB
  • Curation Notes: ClinVar Annotator: match by term: Juvenile-onset dystonia
  • Original References(s): PMID:25741868 PMID:29220674


    • An association has been curated linking ACTB and Juvenile-Onset Dystonia 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:8658860 (Homo sapiens)
  • 1 RGD objects have been annotated to Juvenile-Onset Dystonia  (DOID:9006985)
  • 16 papers in RGD have been used to annotate ACTB
  • Curation Notes: ClinVar Annotator: match by term: Juvenile-onset dystonia
  • Original References(s): PMID:19252504 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking ACTB and Juvenile-Onset Dystonia 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
  • 1 RGD objects have been annotated to Juvenile-Onset Dystonia  (DOID:9006985)
  • 16 papers in RGD have been used to annotate ACTB
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking ACTB and Juvenile-Onset Dystonia 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:12833067|RGD:12833960|RGD:12834221|RGD:12834632|RGD:12841484|RGD:12848364|RGD:13522798|RGD:13533437|RGD:13540124|RGD:150430138|RGD:150454334|RGD:15122919|RGD:15128423|RGD:15129699|RGD:15134922|RGD:15139769|RGD:15146735|RGD:15147285|RGD:15153187|RGD:8658859 (Homo sapiens) & RGD:12833067|RGD:12833960|RGD:12834221|RGD:12834632|RGD:12841484|RGD:12848364|RGD:13522798|RGD:13533437|RGD:13540124|RGD:150430138|RGD:150454334|RGD:15122919|RGD:15128423|RGD:15129699|RGD:15134922|RGD:15139769|RGD:15146735|RGD:15147285|RGD:15153187|RGD:8658859 (Homo sapiens) & RGD:12833067|RGD:12833960|RGD:12834221|RGD:12834632|RGD:12841484|RGD:12848364|RGD:13522798|RGD:13533437|RGD:13540124|RGD:150430138|RGD:150454334|RGD:15122919|RGD:15128423|RGD:15129699|RGD:15134922|RGD:15139769|RGD:15146735|RGD:15147285|RGD:15153187|RGD:8658859 (Homo sapiens) & RGD:12833067|RGD:12833960|RGD:12834221|RGD:12834632|RGD:12841484|RGD:12848364|RGD:13522798|RGD:13533437|RGD:13540124|RGD:150430138|RGD:150454334|RGD:15122919|RGD:15128423|RGD:15129699|RGD:15134922|RGD:15139769|RGD:15146735|RGD:15147285|RGD:15153187|RGD:8658859 (Homo sapiens) & RGD:12833067|RGD:12833960|RGD:12834221|RGD:12834632|RGD:12841484|RGD:12848364|RGD:13522798|RGD:13533437|RGD:13540124|RGD:150430138|RGD:150454334|RGD:15122919|RGD:15128423|RGD:15129699|RGD:15134922|RGD:15139769|RGD:15146735|RGD:15147285|RGD:15153187|RGD:8658859 (Homo sapiens) & RGD:12833067|RGD:12833960|RGD:12834221|RGD:12834632|RGD:12841484|RGD:12848364|RGD:13522798|RGD:13533437|RGD:13540124|RGD:150430138|RGD:150454334|RGD:15122919|RGD:15128423|RGD:15129699|RGD:15134922|RGD:15139769|RGD:15146735|RGD:15147285|RGD:15153187|RGD:8658859 (Homo sapiens) & RGD:12833067|RGD:12833960|RGD:12834221|RGD:12834632|RGD:12841484|RGD:12848364|RGD:13522798|RGD:13533437|RGD:13540124|RGD:150430138|RGD:150454334|RGD:15122919|RGD:15128423|RGD:15129699|RGD:15134922|RGD:15139769|RGD:15146735|RGD:15147285|RGD:15153187|RGD:8658859 (Homo sapiens) & RGD:12833067|RGD:12833960|RGD:12834221|RGD:12834632|RGD:12841484|RGD:12848364|RGD:13522798|RGD:13533437|RGD:13540124|RGD:150430138|RGD:150454334|RGD:15122919|RGD:15128423|RGD:15129699|RGD:15134922|RGD:15139769|RGD:15146735|RGD:15147285|RGD:15153187|RGD:8658859 (Homo sapiens) & RGD:12833067|RGD:12833960|RGD:12834221|RGD:12834632|RGD:12841484|RGD:12848364|RGD:13522798|RGD:13533437|RGD:13540124|RGD:150430138|RGD:150454334|RGD:15122919|RGD:15128423|RGD:15129699|RGD:15134922|RGD:15139769|RGD:15146735|RGD:15147285|RGD:15153187|RGD:8658859 (Homo sapiens) & RGD:12833067|RGD:12833960|RGD:12834221|RGD:12834632|RGD:12841484|RGD:12848364|RGD:13522798|RGD:13533437|RGD:13540124|RGD:150430138|RGD:150454334|RGD:15122919|RGD:15128423|RGD:15129699|RGD:15134922|RGD:15139769|RGD:15146735|RGD:15147285|RGD:15153187|RGD:8658859 (Homo sapiens) & RGD:12833067|RGD:12833960|RGD:12834221|RGD:12834632|RGD:12841484|RGD:12848364|RGD:13522798|RGD:13533437|RGD:13540124|RGD:150430138|RGD:150454334|RGD:15122919|RGD:15128423|RGD:15129699|RGD:15134922|RGD:15139769|RGD:15146735|RGD:15147285|RGD:15153187|RGD:8658859 (Homo sapiens) & RGD:12833067|RGD:12833960|RGD:12834221|RGD:12834632|RGD:12841484|RGD:12848364|RGD:13522798|RGD:13533437|RGD:13540124|RGD:150430138|RGD:150454334|RGD:15122919|RGD:15128423|RGD:15129699|RGD:15134922|RGD:15139769|RGD:15146735|RGD:15147285|RGD:15153187|RGD:8658859 (Homo sapiens) & RGD:12833067|RGD:12833960|RGD:12834221|RGD:12834632|RGD:12841484|RGD:12848364|RGD:13522798|RGD:13533437|RGD:13540124|RGD:150430138|RGD:150454334|RGD:15122919|RGD:15128423|RGD:15129699|RGD:15134922|RGD:15139769|RGD:15146735|RGD:15147285|RGD:15153187|RGD:8658859 (Homo sapiens) & RGD:12833067|RGD:12833960|RGD:12834221|RGD:12834632|RGD:12841484|RGD:12848364|RGD:13522798|RGD:13533437|RGD:13540124|RGD:150430138|RGD:150454334|RGD:15122919|RGD:15128423|RGD:15129699|RGD:15134922|RGD:15139769|RGD:15146735|RGD:15147285|RGD:15153187|RGD:8658859 (Homo sapiens) & RGD:12833067|RGD:12833960|RGD:12834221|RGD:12834632|RGD:12841484|RGD:12848364|RGD:13522798|RGD:13533437|RGD:13540124|RGD:150430138|RGD:150454334|RGD:15122919|RGD:15128423|RGD:15129699|RGD:15134922|RGD:15139769|RGD:15146735|RGD:15147285|RGD:15153187|RGD:8658859 (Homo sapiens) & RGD:12833067|RGD:12833960|RGD:12834221|RGD:12834632|RGD:12841484|RGD:12848364|RGD:13522798|RGD:13533437|RGD:13540124|RGD:150430138|RGD:150454334|RGD:15122919|RGD:15128423|RGD:15129699|RGD:15134922|RGD:15139769|RGD:15146735|RGD:15147285|RGD:15153187|RGD:8658859 (Homo sapiens) & RGD:12833067|RGD:12833960|RGD:12834221|RGD:12834632|RGD:12841484|RGD:12848364|RGD:13522798|RGD:13533437|RGD:13540124|RGD:150430138|RGD:150454334|RGD:15122919|RGD:15128423|RGD:15129699|RGD:15134922|RGD:15139769|RGD:15146735|RGD:15147285|RGD:15153187|RGD:8658859 (Homo sapiens) & RGD:12833067|RGD:12833960|RGD:12834221|RGD:12834632|RGD:12841484|RGD:12848364|RGD:13522798|RGD:13533437|RGD:13540124|RGD:150430138|RGD:150454334|RGD:15122919|RGD:15128423|RGD:15129699|RGD:15134922|RGD:15139769|RGD:15146735|RGD:15147285|RGD:15153187|RGD:8658859 (Homo sapiens) & RGD:12833067|RGD:12833960|RGD:12834221|RGD:12834632|RGD:12841484|RGD:12848364|RGD:13522798|RGD:13533437|RGD:13540124|RGD:150430138|RGD:150454334|RGD:15122919|RGD:15128423|RGD:15129699|RGD:15134922|RGD:15139769|RGD:15146735|RGD:15147285|RGD:15153187|RGD:8658859 (Homo sapiens) & RGD:12833067|RGD:12833960|RGD:12834221|RGD:12834632|RGD:12841484|RGD:12848364|RGD:13522798|RGD:13533437|RGD:13540124|RGD:150430138|RGD:150454334|RGD:15122919|RGD:15128423|RGD:15129699|RGD:15134922|RGD:15139769|RGD:15146735|RGD:15147285|RGD:15153187|RGD:8658859 (Homo sapiens)
  • 1 RGD objects have been annotated to Juvenile-Onset Dystonia  (DOID:9006985)
  • 16 papers in RGD have been used to annotate ACTB
  • Curation Notes: ClinVar Annotator: match by term: Juvenile-onset dystonia
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking ACTB and Juvenile-Onset Dystonia 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:8600923 (Homo sapiens)
  • 1 RGD objects have been annotated to Juvenile-Onset Dystonia  (DOID:9006985)
  • 16 papers in RGD have been used to annotate ACTB
  • Curation Notes: ClinVar Annotator: match by term: Juvenile-onset dystonia
  • Original References(s): PMID:12325076 PMID:16685646 PMID:22366783 PMID:25255767 PMID:25741868 PMID:26583190 PMID:27862284 PMID:28487785 PMID:28492532 PMID:28849312 PMID:29788902 PMID:30315159 PMID:31970217 PMID:33446253 PMID:35005077 PMID:9714430


    • An association has been curated linking ACTB and Juvenile-Onset Dystonia 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:10048121|RGD:13796644|RGD:13796648 (Homo sapiens) & RGD:10048121|RGD:13796644|RGD:13796648 (Homo sapiens) & RGD:10048121|RGD:13796644|RGD:13796648 (Homo sapiens)
  • 1 RGD objects have been annotated to Juvenile-Onset Dystonia  (DOID:9006985)
  • 16 papers in RGD have been used to annotate ACTB
  • Curation Notes: ClinVar Annotator: match by term: Juvenile-onset dystonia
  • Original References(s): PMID:25741868


    • An association has been curated linking ACTB and Juvenile-Onset Dystonia 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:11637212|RGD:11640323|RGD:12832910 (Homo sapiens) & RGD:11637212|RGD:11640323|RGD:12832910 (Homo sapiens) & RGD:11637212|RGD:11640323|RGD:12832910 (Homo sapiens)
  • 1 RGD objects have been annotated to Juvenile-Onset Dystonia  (DOID:9006985)
  • 16 papers in RGD have been used to annotate ACTB
  • Curation Notes: ClinVar Annotator: match by term: Juvenile-onset dystonia
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532


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