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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking PTGIS and cerebral cavernous malformation 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Choquet H, etal., Free Radic Biol Med. 2016 Mar;92:100-109. doi: 10.1016/j.freeradbiomed.2016.01.008. Epub 2016 Jan 19.
  • 3 additional annotations were made from Choquet H, etal., Free Radic Biol Med. 2016 Mar;92:100-109. doi: 10.1016/j.freeradbiomed.2016.01.008. Epub 2016 Jan 19.
  • 3 RGD objects have been annotated to cerebral cavernous malformation 1  (DOID:0080491)
  • 64 papers in RGD have been used to annotate PTGIS
  • Qualifier: exacerbates
  • Curation Notes: DNA:silent mutation:CDS:p.L256L (rs5628) (human)


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