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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking TMEM67 and COACH syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Doherty D, etal., J Med Genet. 2010 Jan;47(1):8-21. doi: 10.1136/jmg.2009.067249. Epub 2009 Jul 1.
  • 2 additional annotations were made from Doherty D, etal., J Med Genet. 2010 Jan;47(1):8-21. doi: 10.1136/jmg.2009.067249. Epub 2009 Jul 1.
  • 3 CRRD objects have been annotated to COACH syndrome  (DOID:0111589)
  • 17 papers in CRRD have been used to annotate TMEM67
  • Curation Notes: DNA:missense mutations: :multiple


  • An association has been curated linking Tmem67 and COACH syndrome in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Doherty D, etal., J Med Genet. 2010 Jan;47(1):8-21. doi: 10.1136/jmg.2009.067249. Epub 2009 Jul 1.
  • The annotation has been inferred from sequence orthology with TMEM67 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Doherty D, etal., J Med Genet. 2010 Jan;47(1):8-21. doi: 10.1136/jmg.2009.067249. Epub 2009 Jul 1.
  • 3 CRRD objects have been annotated to COACH syndrome  (DOID:0111589)
  • 18 papers in CRRD have been used to annotate Tmem67
  • Curation Notes: DNA:missense mutations: :multiple


  • An association has been curated linking Tmem67 and COACH syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Doherty D, etal., J Med Genet. 2010 Jan;47(1):8-21. doi: 10.1136/jmg.2009.067249. Epub 2009 Jul 1.
  • The annotation has been inferred from sequence orthology with TMEM67 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Doherty D, etal., J Med Genet. 2010 Jan;47(1):8-21. doi: 10.1136/jmg.2009.067249. Epub 2009 Jul 1.
  • 3 CRRD objects have been annotated to COACH syndrome  (DOID:0111589)
  • 21 papers in CRRD have been used to annotate Tmem67
  • Curation Notes: DNA:missense mutations: :multiple


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