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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Ctnnb1 and GM1 gangliosidosis 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 CTNNB1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to GM1 gangliosidosis  (DOID:3322)
  • 116 papers in RGD have been used to annotate Ctnnb1
  • Curation Notes: ClinVar Annotator: match by term: GLB1 deficiency
  • Original References(s): PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 PMID:28191889 PMID:28492532 PMID:28575650 PMID:33004838


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