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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Pon1 and cerebral cavernous malformation in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Rinaldi C, etal., J Biol Regul Homeost Agents. 2015 Apr-Jun;29(2):493-500.
  • The annotation has been inferred from sequence orthology with PON1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Rinaldi C, etal., J Biol Regul Homeost Agents. 2015 Apr-Jun;29(2):493-500.
  • 18 RGD objects have been annotated to cerebral cavernous malformation  (DOID:0060669)
  • 91 papers in RGD have been used to annotate Pon1
  • Qualifier: susceptibility
  • Curation Notes: DNA:missense mutations:cds:p.L55M, p.Q192R (human)


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