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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Ttc21b and Joubert syndrome 1 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 TTC21B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 228 RGD objects have been annotated to Joubert syndrome 1  (DOID:0110980)
  • 2 papers in RGD have been used to annotate Ttc21b
  • Curation Notes: ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1
  • Original References(s): PMID:21258341 PMID:24033266 PMID:25741868 PMID:28492532


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