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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Gpsm2 and sensorineural hearing loss in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Walsh T, etal., Am J Hum Genet. 2010 Jul 9;87(1):90-4. doi: 10.1016/j.ajhg.2010.05.010. Epub 2010 Jun 17.
  • The annotation has been inferred from sequence orthology with GPSM2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Walsh T, etal., Am J Hum Genet. 2010 Jul 9;87(1):90-4. doi: 10.1016/j.ajhg.2010.05.010. Epub 2010 Jun 17.
  • 625 RGD objects have been annotated to sensorineural hearing loss  (DOID:10003)
  • 9 papers in RGD have been used to annotate Gpsm2
  • Curation Notes: DNA:nonsense mutation:cds:p.R127X(human)


    • An association has been curated linking Gpsm2 and sensorineural hearing loss in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Yariz KO, etal., Clin Genet. 2012 Mar;81(3):289-93. doi: 10.1111/j.1399-0004.2011.01654.x. Epub 2011 Mar 15.
  • The annotation has been inferred from sequence orthology with GPSM2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Yariz KO, etal., Clin Genet. 2012 Mar;81(3):289-93. doi: 10.1111/j.1399-0004.2011.01654.x. Epub 2011 Mar 15.
  • 625 RGD objects have been annotated to sensorineural hearing loss  (DOID:10003)
  • 9 papers in RGD have been used to annotate Gpsm2
  • Curation Notes: DNA:nonsense mutation:exon:c.1684C>T(p.Q562X(human)


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