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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking GJB3 and Nonsyndromic Sensorineural Hearing Loss in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Liu XZ, etal., Hum Genet. 2009 Feb;125(1):53-62. doi: 10.1007/s00439-008-0602-9. Epub 2008 Dec 3.
  • 2 additional annotations were made from Liu XZ, etal., Hum Genet. 2009 Feb;125(1):53-62. doi: 10.1007/s00439-008-0602-9. Epub 2008 Dec 3.
  • 30 RGD objects have been annotated to Nonsyndromic Sensorineural Hearing Loss  (DOID:9007966)
  • 20 papers in RGD have been used to annotate GJB3
  • Curation Notes: DNA:missense mutations:cds:p.N166S, p.A194T (human)


  • An association has been curated linking Gjb3 and Nonsyndromic Sensorineural Hearing Loss in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Liu XZ, etal., Hum Genet. 2009 Feb;125(1):53-62. doi: 10.1007/s00439-008-0602-9. Epub 2008 Dec 3.
  • The annotation has been inferred from sequence orthology with GJB3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Liu XZ, etal., Hum Genet. 2009 Feb;125(1):53-62. doi: 10.1007/s00439-008-0602-9. Epub 2008 Dec 3.
  • 30 RGD objects have been annotated to Nonsyndromic Sensorineural Hearing Loss  (DOID:9007966)
  • 30 papers in RGD have been used to annotate Gjb3
  • Curation Notes: DNA:missense mutations:cds:p.N166S, p.A194T (human)


  • An association has been curated linking Gjb3 and Nonsyndromic Sensorineural Hearing Loss in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Liu XZ, etal., Hum Genet. 2009 Feb;125(1):53-62. doi: 10.1007/s00439-008-0602-9. Epub 2008 Dec 3.
  • The annotation has been inferred from sequence orthology with GJB3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Liu XZ, etal., Hum Genet. 2009 Feb;125(1):53-62. doi: 10.1007/s00439-008-0602-9. Epub 2008 Dec 3.
  • 30 RGD objects have been annotated to Nonsyndromic Sensorineural Hearing Loss  (DOID:9007966)
  • 23 papers in RGD have been used to annotate Gjb3
  • Curation Notes: DNA:missense mutations:cds:p.N166S, p.A194T (human)


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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.