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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Casq2 and caudal regression syndrome 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 CASQ2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to caudal regression syndrome  (DOID:0080700)
  • 21 papers in RGD have been used to annotate Casq2
  • Curation Notes: ClinVar Annotator: match by term: Caudal regression sequence | ClinVar Annotator: match by term: Sacral defect with anterior meningocele
  • Original References(s): PMID:24033266 PMID:25741868 PMID:26196381 PMID:28492532


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