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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Grin1 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 GRIN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 228 RGD objects have been annotated to Joubert syndrome 1  (DOID:0110980)
  • 3 papers in RGD have been used to annotate Grin1
  • Curation Notes: ClinVar Annotator: match by term: Familial aplasia of the vermis
  • Original References(s): PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532


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