Annotation Detail

Information
Associated Genes
ADIPOQ
Associated Variants
ALOX5AP c.241+18C>A ( ENST00000380490.5, ENST00000617770.4 )
LGALS2 c.6+3279C>T ( ENST00000215886.6 )
FABP1 p.Thr94Ala (p.T94A) ( ENST00000295834.8, ENST00000393750.3 )
FABP1 p.Ala54Thr (p.A54T) ( ENST00000295834.8, ENST00000393750.3 )
rs266729
FABP2 p.Thr55Ser (p.T55S) ( ENST00000274024.4 )
FABP2 p.Thr55Ala (p.T55A) ( ENST00000274024.4 )
FABP2 p.Thr55Pro (p.T55P) ( ENST00000274024.4 )
ROS1 p.Asp2213His (p.D2213H) ( ENST00000368507.8, ENST00000368508.7 )
ROS1 p.Asp2213Asn (p.D2213N) ( ENST00000368507.8, ENST00000368508.7 )
NOS3 c.-51-762C>T ( ENST00000297494.8, ENST00000461406.5 )
ALOX5AP c.241+18C>A ( ENST00000380490.5, ENST00000617770.4 )
LGALS2 c.6+3279C>T ( ENST00000215886.6 )
FABP1 p.Thr94Ala (p.T94A) ( ENST00000295834.8, ENST00000393750.3 )
FABP1 p.Ala54Thr (p.A54T) ( ENST00000295834.8, ENST00000393750.3 )
rs266729
FABP2 p.Thr55Ser (p.T55S) ( ENST00000274024.4 )
FABP2 p.Thr55Ala (p.T55A) ( ENST00000274024.4 )
FABP2 p.Thr55Pro (p.T55P) ( ENST00000274024.4 )
ROS1 p.Asp2213His (p.D2213H) ( ENST00000368507.8, ENST00000368508.7 )
ROS1 p.Asp2213Asn (p.D2213N) ( ENST00000368507.8, ENST00000368508.7 )
NOS3 c.-51-762C>T ( ENST00000297494.8, ENST00000461406.5 )
Associated Disease
Cerebrovascular accident
Source Database
DisGeNET
Description
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body mass index, and the prevalence of hypertension, hypercholesterolemia, and diabetes mellitus, as well as a stepwise forward selection procedure revealed that the 2445G-->A (Ala54Thr) polymorphism (rs1799883) of FABP2, the -108/3G-->4G polymorphism of IPF1 (S82168), the A-->G (Thr94Ala) polymorphism (rs2241883) of FABP1, the G-->A (Asp2213Asn) polymorphism (rs529038) of ROS1, the -11377C-->G polymorphism (rs266729) of ADIPOQ, the 162A-->C polymorphism (rs4769055) of ALOX5AP, the -786T-->C polymorphism (rs2070744) of NOS3, and the 3279C-->T polymorphism (rs7291467) of LGALS2 were associated (P<0.05) with the prevalence of atherothrombotic cerebral infarction.
Pubmed
18506375
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00290991572276264
Year of publication
2008
Drugs