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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking ARL13B and Joubert syndrome 8 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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.
  • 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.
  • 5 RGD objects have been annotated to Joubert syndrome 8  (DOID:0111003)
  • 8 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 Mus musculus.        

  • 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.
  • 5 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 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.
  • 5 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)


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