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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Kcnh1 and Zimmerman Laband Syndrome in Chinchilla lanigera.        

  • 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 KCNH1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Zimmerman Laband Syndrome  (DOID:9004260)
  • 2 papers in RGD have been used to annotate Kcnh1
  • Curation Notes: ClinVar Annotator: match by term: Laband syndrome
  • Original References(s): PMID:23020937 PMID:25741868 PMID:26264464 PMID:26818738 PMID:28492532 PMID:28628100 PMID:32581362 PMID:32860008


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