Annotation Detail

Information
Associated Genes
GALNT2
Associated Variants
GALNT2 c.127-18273G>A ( ENST00000366672.5 )
TBL2 c.*1963G>A ( ENST00000305632.11 )
MLXIPL p.Gln241His (p.Q241H) ( ENST00000313375.8, ENST00000354613.5, ENST00000414749.6, ENST00000429400.6, ENST00000434326.5 )
GALNT2 c.127-18274G>A ( ENST00000366672.5 )
TBL2 c.*1963G>A ( ENST00000305632.11 )
MLXIPL p.Gln241His (p.Q241H) ( ENST00000313375.8, ENST00000354613.5, ENST00000414749.6, ENST00000429400.6, ENST00000434326.5 )
Associated Disease
Cerebrovascular accident
Source Database
DisGeNET
Description
Because affected lipid metabolism can confer risk to the development of ischaemic stroke, we studied three polymorphisms reportedly associated with triglyceride-level changes, rs17145738 and rs3812316 of the MLXIPL locus, and rs4846914 variant of GALNT2 gene in biobanked samples of patients with stroke.
Pubmed
20158509
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00263847385068233
Year of publication
2010
Drugs