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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Ap3b1 and interstitial lung disease in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Gochuico BR, etal., Mol Med. 2012 Feb 10;18:56-64. doi: 10.2119/molmed.2011.00198.
  • The annotation has been inferred from sequence orthology with AP3B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Gochuico BR, etal., Mol Med. 2012 Feb 10;18:56-64. doi: 10.2119/molmed.2011.00198.
  • 504 RGD objects have been annotated to interstitial lung disease  (DOID:3082)
  • 12 papers in RGD have been used to annotate Ap3b1
  • Curation Notes: associated with Hermansky-Pudlak Syndrome 2;DNA:snps, missense mutation, nonsense mutations:exons, introns:multiple (human)


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