Annotation Detail

Information
Associated Genes
CYP2C9
Associated Variants
CYP2C9 p.Arg144Cys (p.R144C) ( ENST00000461906.1, ENST00000260682.8 )
CYP2C9 p.Ile359Leu (p.I359L) ( ENST00000260682.8 )
CYP2C8 p.Lys399Arg (p.K399R) ( ENST00000623108.3, ENST00000371270.6, ENST00000535898.5 )
CYP2C8 p.Arg139Lys (p.R139K) ( ENST00000535898.5, ENST00000628935.1, ENST00000623108.3, ENST00000371270.6 )
CYP2C9 p.Arg144Cys (p.R144C) ( ENST00000260682.8, ENST00000461906.1 )
CYP2C9 p.Ile359Leu (p.I359L) ( ENST00000260682.8 )
CYP2C8 p.Lys399Arg (p.K399R) ( ENST00000371270.6, ENST00000535898.5, ENST00000623108.3 )
CYP2C8 p.Arg139Lys (p.R139K) ( ENST00000371270.6, ENST00000535898.5, ENST00000623108.3, ENST00000628935.1 )
Associated Disease
Acute gastrointestinal hemorrhage
Source Database
DisGeNET
Description
Individuals carrying the gene variants CYP2C8*3 (rs11572080; rs10509681), CYP2C9*2 (rs1799853) or CYP2C9*3 (rs1057910) show increased risk of developing acute gastrointestinal bleeding during the use of NSAID that are CYP2C8 or CYP2C9 substrates.
Pubmed
19422321
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2009
Drugs