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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking ENPP1 and Abnormal cerebral vascular morphology in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
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  • The annotation was made from Flanagan JM, etal., Blood. 2013 Apr 18;121(16):3237-45. doi: 10.1182/blood-2012-10-464156. Epub 2013 Feb 19.
  • 3 additional annotations were made from Flanagan JM, etal., Blood. 2013 Apr 18;121(16):3237-45. doi: 10.1182/blood-2012-10-464156. Epub 2013 Feb 19.
  • 957 RGD objects have been annotated to Abnormal cerebral vascular morphology  (HP:0100659)
  • 28 papers in RGD have been used to annotate ENPP1
  • Qualifier: susceptibility
  • Curation Notes: associated with Anemia, Sickle Cell;DNA:missense mutation:cds:p.K173Q


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