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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Ofd1 and retinitis pigmentosa in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Webb TR, etal., Hum Mol Genet. 2012 Aug 15;21(16):3647-54. doi: 10.1093/hmg/dds194. Epub 2012 May 22.
  • The annotation has been inferred from sequence orthology with OFD1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Webb TR, etal., Hum Mol Genet. 2012 Aug 15;21(16):3647-54. doi: 10.1093/hmg/dds194. Epub 2012 May 22.
  • 623 RGD objects have been annotated to retinitis pigmentosa  (DOID:10584)
  • 14 papers in RGD have been used to annotate Ofd1
  • Curation Notes: DNA, mRNA:frameshift mutation, splice variant:IVS9+706A>G (human)


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