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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking KCNJ10 and Sensorineural hearing impairment in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Bockenhauer D, etal., N Engl J Med. 2009 May 7;360(19):1960-70. doi: 10.1056/NEJMoa0810276.
  • 8 additional annotations were made from Bockenhauer D, etal., N Engl J Med. 2009 May 7;360(19):1960-70. doi: 10.1056/NEJMoa0810276.
  • 997 RGD objects have been annotated to Sensorineural hearing impairment  (HP:0000407)
  • 26 papers in RGD have been used to annotate KCNJ10
  • Curation Notes: DNA:missense mutations:cds:c.194G>C (p.R65P), c.229G>C (p.G77R)


    • An association has been curated linking KCNJ10 and Sensorineural hearing impairment in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 997 RGD objects have been annotated to Sensorineural hearing impairment  (HP:0000407)
  • 26 papers in RGD have been used to annotate KCNJ10
  • Original References(s): ORPHA:199343


    • An association has been curated linking KCNJ10 and Sensorineural hearing impairment in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 997 RGD objects have been annotated to Sensorineural hearing impairment  (HP:0000407)
  • 26 papers in RGD have been used to annotate KCNJ10
  • Original References(s): OMIM:600791


    • An association has been curated linking KCNJ10 and Sensorineural hearing impairment in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 997 RGD objects have been annotated to Sensorineural hearing impairment  (HP:0000407)
  • 26 papers in RGD have been used to annotate KCNJ10
  • Original References(s): OMIM:612780


    • An association has been curated linking KCNJ10 and Sensorineural hearing impairment in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 997 RGD objects have been annotated to Sensorineural hearing impairment  (HP:0000407)
  • 26 papers in RGD have been used to annotate KCNJ10
  • Original References(s): ORPHA:705


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