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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Gja1 and palmoplantar keratosis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Wang H, etal., Hum Mol Genet. 2015 Jan 1;24(1):243-50. doi: 10.1093/hmg/ddu442. Epub 2014 Aug 28.
  • The annotation has been inferred from sequence orthology with GJA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Wang H, etal., Hum Mol Genet. 2015 Jan 1;24(1):243-50. doi: 10.1093/hmg/ddu442. Epub 2014 Aug 28.
  • 44 RGD objects have been annotated to palmoplantar keratosis  (DOID:3390)
  • 155 papers in RGD have been used to annotate Gja1
  • Curation Notes: DNA:mutation:cds:c.23G>A,p.G8V(human)


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