Annotation Detail
Information
- Associated Genes
- CYP2C9
- Associated Variants
-
CYP2C9 MUTATION
CYP2C9 MUTATION
CYP2C9 p.Arg144Cys (p.R144C) ( ENST00000461906.1, ENST00000260682.8 )
EPHX1 p.Tyr113His (p.Y113H) ( ENST00000614058.4, ENST00000272167.10, ENST00000366837.5 )
EPHX1 p.His139Arg (p.H139R) ( ENST00000272167.10, ENST00000366837.5, ENST00000614058.4 )
EPHX1 p.His139Leu (p.H139L) ( ENST00000614058.4, ENST00000366837.5, ENST00000272167.10 )
CYP2C9 p.Arg144Cys (p.R144C) ( ENST00000260682.8, ENST00000461906.1 )
EPHX1 p.Tyr113His (p.Y113H) ( ENST00000272167.10, ENST00000366837.5, ENST00000614058.4 )
EPHX1 p.His139Arg (p.H139R) ( ENST00000272167.10, ENST00000366837.5, ENST00000614058.4 )
EPHX1 p.His139Leu (p.H139L) ( ENST00000272167.10, ENST00000366837.5, ENST00000614058.4 ) - Associated Disease
- Craniofacial Abnormalities
- Source Database
- DisGeNET
- Description
- The goal of this study was to assess the effect of maternal genotype of functional polymorphisms in two genes involved in phenytoin metabolism, CYP2C9 (R144C, I395L) and EPHX1 (Y113H, H139R), on the presence of major craniofacial abnormalities (CFAs) in the child.
- Pubmed
- 19952982
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2010
Drugs