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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Arl13b and Joubert syndrome 8 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Cantagrel V, etal., Am J Hum Genet. 2008 Aug;83(2):170-9. doi: 10.1016/j.ajhg.2008.06.023.
  • The annotation has been inferred from sequence orthology with ARL13B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Cantagrel V, etal., Am J Hum Genet. 2008 Aug;83(2):170-9. doi: 10.1016/j.ajhg.2008.06.023.
  • 4 RGD objects have been annotated to Joubert syndrome 8  (DOID:0111003)
  • 11 papers in RGD have been used to annotate Arl13b
  • Curation Notes: DNA:missense mutations, nonsense mutation:p.R79Q, p.R200C, p.W82X (human)


  • An association has been curated linking Arl13b and Joubert syndrome 8 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with ARL13B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to Joubert syndrome 8  (DOID:0111003)
  • 11 papers in RGD have been used to annotate Arl13b


  • An association has been curated linking Arl13b and Joubert syndrome 8 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 ARL13B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to Joubert syndrome 8  (DOID:0111003)
  • 11 papers in RGD have been used to annotate Arl13b
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 8
  • Original References(s): PMID:16199547 PMID:17576681 PMID:18674751 PMID:24033266 PMID:25138100 PMID:25741868 PMID:26092869 PMID:26132555 PMID:28492532 PMID:9536098


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