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GENE - TERM ANNOTATION REPORT

7 Annotations Found.

An association has been curated linking ATP1A3 and 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:8569931 (Homo sapiens)
  • 668 RGD objects have been annotated to Dystonia  (HP:0001332)
  • 12 papers in RGD have been used to annotate ATP1A3
  • Curation Notes: ClinVar Annotator: match by term: Dystonia
  • Original References(s): PMID:15260953 PMID:22842232 PMID:22850527 PMID:23409136 PMID:24100174 PMID:24431296 PMID:24631656 PMID:24842602 PMID:25523819 PMID:25681536 PMID:25741868 PMID:25996915 PMID:26410222 PMID:26417536 PMID:26633545 PMID:28293679 PMID:28492532 PMID:32581362


    • An association has been curated linking ATP1A3 and 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 human HPO-to-gene-to-disease annotations
  • 668 RGD objects have been annotated to Dystonia  (HP:0001332)
  • 12 papers in RGD have been used to annotate ATP1A3
  • Original References(s): OMIM:601338


    • An association has been curated linking ATP1A3 and 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 human HPO-to-gene-to-disease annotations
  • 668 RGD objects have been annotated to Dystonia  (HP:0001332)
  • 12 papers in RGD have been used to annotate ATP1A3
  • Original References(s): OMIM:614820


    • An association has been curated linking ATP1A3 and 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 human HPO-to-gene-to-disease annotations
  • 668 RGD objects have been annotated to Dystonia  (HP:0001332)
  • 12 papers in RGD have been used to annotate ATP1A3
  • Original References(s): OMIM:128235


    • An association has been curated linking ATP1A3 and 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 human HPO-to-gene-to-disease annotations
  • 668 RGD objects have been annotated to Dystonia  (HP:0001332)
  • 12 papers in RGD have been used to annotate ATP1A3
  • Original References(s): ORPHA:1171


    • An association has been curated linking ATP1A3 and 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 human HPO-to-gene-to-disease annotations
  • 668 RGD objects have been annotated to Dystonia  (HP:0001332)
  • 12 papers in RGD have been used to annotate ATP1A3
  • Original References(s): ORPHA:2131


    • An association has been curated linking ATP1A3 and 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:8569932 (Homo sapiens)
  • 668 RGD objects have been annotated to Dystonia  (HP:0001332)
  • 12 papers in RGD have been used to annotate ATP1A3
  • Curation Notes: ClinVar Annotator: match by term: Dystonia
  • Original References(s): PMID:20301294 PMID:21911500 PMID:22842232 PMID:22850527 PMID:23409136 PMID:24631656 PMID:24842602 PMID:25681536 PMID:25741868 PMID:25996915 PMID:26410222 PMID:28293679 PMID:28492532 PMID:28637637 PMID:30071271


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