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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Cacnb4 and episodic ataxia type 5 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with CACNB4 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to episodic ataxia type 5  (DOID:0050993)
  • 18 papers in RGD have been used to annotate Cacnb4
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Cacnb4 and episodic ataxia type 5 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with CACNB4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to episodic ataxia type 5  (DOID:0050993)
  • 18 papers in RGD have been used to annotate Cacnb4
  • Qualifier: susceptibility


    • An association has been curated linking Cacnb4 and episodic ataxia type 5 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • 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 from sequence orthology with CACNB4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to episodic ataxia type 5  (DOID:0050993)
  • 18 papers in RGD have been used to annotate Cacnb4
  • Curation Notes: ClinVar Annotator: match by term: Episodic ataxia type 5
  • Original References(s): PMID:10762541 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532


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