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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking CHMP1B 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:151720932 (Homo sapiens)
  • 746 RGD objects have been annotated to Dystonia  (HP:0001332)
  • 2 papers in RGD have been used to annotate CHMP1B
  • Curation Notes: ClinVar Annotator: match by term: Dystonia
  • Original References(s): PMID:23222958 PMID:24405754 PMID:27123488 PMID:28492532


  • An association has been curated linking CHMP1B 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:156436478 (Homo sapiens)
  • 746 RGD objects have been annotated to Dystonia  (HP:0001332)
  • 2 papers in RGD have been used to annotate CHMP1B
  • Curation Notes: ClinVar Annotator: match by term: Dystonia
  • Original References(s): PMID:25817843 PMID:28492532


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