Annotation Detail
Information
- Associated Genes
- LIMK1
- Associated Variants
-
ROS1 p.Ser2229Cys (p.S2229C)
(
ENST00000368507.8,
ENST00000368508.7 )
rs710968 ( ENST00000418310.5 )
CYP3A4 p.Ile118Phe (p.I118F) ( ENST00000336411.7, ENST00000354593.6, ENST00000651514.1, ENST00000652018.1 )
CYP3A4 p.Ile118Val (p.I118V) ( ENST00000336411.7, ENST00000354593.6, ENST00000651514.1, ENST00000652018.1 )
ABCA1 c.-327C>T
rs3027898
IRAK1 p.Ser532Leu (p.S532L) ( ENST00000369974.6, ENST00000369980.8, ENST00000393687.6, ENST00000429936.6 )
ROS1 p.Ser2229Cys (p.S2229C) ( ENST00000368507.8, ENST00000368508.7 )
rs710968 ( ENST00000418310.5 )
CYP3A4 p.Ile118Phe (p.I118F) ( ENST00000336411.7, ENST00000354593.6, ENST00000651514.1, ENST00000652018.1 )
CYP3A4 p.Ile118Val (p.I118V) ( ENST00000336411.7, ENST00000354593.6, ENST00000651514.1, ENST00000652018.1 )
ABCA1 c.-327C>T
rs3027898
IRAK1 p.Ser532Leu (p.S532L) ( ENST00000369974.6, ENST00000369980.8, ENST00000393687.6, ENST00000429936.6 ) - Associated Disease
- cerebral infarction
- Source Database
- DisGeNET
- Description
- An initial chi(2) test (false discovery rate <0.05) and subsequent multivariable logistic-regression analysis with adjustment for conventional risk factors (P<0.05) revealed that the -14C-->T polymorphism (rs1800977) of ABCA1, the A-->C (rs3027898) and C-->T (Ser532Leu, rs1059703) polymorphisms of IRAK1, and the G-->C (Cys2229Ser) polymorphism (rs619203) of ROS1 were significantly associated with atherothrombotic cerebral infarction; that the -428G-->A polymorphism (rs710968) of LIMK1 was significantly associated with intracerebral hemorrhage; and that the 13989A-->G (Ile118Val) polymorphism (NC_000007.12) of CYP3A4 was significantly associated with subarachnoid hemorrhage.
- Pubmed
- 18566305
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2008
Drugs