Annotation Detail

Information
Associated Genes
APOA5
Associated Variants
APOA5 p.Ser19Leu (p.S19L) ( ENST00000673688.1, ENST00000227665.9, ENST00000542499.5 )
APOA5 p.Ser19Trp (p.S19W) ( ENST00000542499.5, ENST00000227665.9, ENST00000673688.1 )
APOA5 p.Ser19Leu (p.S19L) ( ENST00000227665.9, ENST00000542499.5, ENST00000673688.1 )
APOA5 p.Ser19Trp (p.S19W) ( ENST00000227665.9, ENST00000542499.5, ENST00000673688.1 )
Associated Disease
diabetes mellitus
Source Database
DisGeNET
Description
We found that: (i) genotypes, including those of APOA5 S19W, APOA5 -1131T > C, APOE, GCKR, TRIB1 and TBL2/MLXIPL, were significantly associated with severe HTG; (ii) odds ratios for these genetic variables were significant in both univariate and multivariate regression analyses, irrespective of the presence or absence of diabetes or obesity; (iii) a significant fraction-about one-quarter-of the explained variation in disease status was associated with these genotypes.
Pubmed
18596051
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00699147532563133
Year of publication
2008
Drugs