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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Casr and calcium oxalate nephrolithiasis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Scillitani A, etal., J Clin Endocrinol Metab. 2007 Jan;92(1):277-83. doi: 10.1210/jc.2006-0857. Epub 2006 Oct 3.
  • The annotation has been inferred from sequence orthology with CASR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Scillitani A, etal., J Clin Endocrinol Metab. 2007 Jan;92(1):277-83. doi: 10.1210/jc.2006-0857. Epub 2006 Oct 3.
  • 30 RGD objects have been annotated to calcium oxalate nephrolithiasis  (DOID:0080652)
  • 71 papers in RGD have been used to annotate Casr
  • Curation Notes: DNA:missense mutation:cds:p.R990G (rs1042636)(human)


    • An association has been curated linking Casr and calcium oxalate nephrolithiasis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Vezzoli G, etal., Eur J Endocrinol. 2011 Mar;164(3):421-7. doi: 10.1530/EJE-10-0915. Epub 2010 Dec 23.
  • The annotation has been inferred from sequence orthology with CASR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Vezzoli G, etal., Eur J Endocrinol. 2011 Mar;164(3):421-7. doi: 10.1530/EJE-10-0915. Epub 2010 Dec 23.
  • 30 RGD objects have been annotated to calcium oxalate nephrolithiasis  (DOID:0080652)
  • 71 papers in RGD have been used to annotate Casr
  • Qualifier: susceptibility
  • Curation Notes: associated with Hyperparathyroidism, Primary; DNA:snp:intron:IVS1 G>A rs1501899 (human)


    • An association has been curated linking Casr and calcium oxalate nephrolithiasis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Shakhssalim N, etal., Scand J Urol Nephrol. 2010 Dec;44(6):406-12. doi: 10.3109/00365599.2010.497770. Epub 2010 Jul 5.
  • The annotation has been inferred from sequence orthology with CASR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 9 additional annotations were made from Shakhssalim N, etal., Scand J Urol Nephrol. 2010 Dec;44(6):406-12. doi: 10.3109/00365599.2010.497770. Epub 2010 Jul 5.
  • 30 RGD objects have been annotated to calcium oxalate nephrolithiasis  (DOID:0080652)
  • 71 papers in RGD have been used to annotate Casr
  • Curation Notes: DNA:missense mutations:cds:p.A986S, p.E1011Q (human)


    • An association has been curated linking Casr and calcium oxalate nephrolithiasis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Chou YH, etal., PLoS One. 2011;6(9):e25227. doi: 10.1371/journal.pone.0025227. Epub 2011 Sep 22.
  • The annotation has been inferred from sequence orthology with CASR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Chou YH, etal., PLoS One. 2011;6(9):e25227. doi: 10.1371/journal.pone.0025227. Epub 2011 Sep 22.
  • 30 RGD objects have been annotated to calcium oxalate nephrolithiasis  (DOID:0080652)
  • 71 papers in RGD have been used to annotate Casr
  • Curation Notes: DNA:snp:intron:IVS4+11988A>G rs17251221 (human)


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