Annotation Detail
Information
- Associated Genes
- MTTP
- Associated Variants
-
APOA5 p.Ser19Leu (p.S19L)
(
ENST00000673688.1,
ENST00000227665.9,
ENST00000542499.5 )
APOA5 p.Ser19Trp (p.S19W) ( ENST00000542499.5, ENST00000227665.9, ENST00000673688.1 )
NC_000015.10:g.58431476C>T ( ENST00000356113.10, ENST00000414170.7 )
LDLR p.Val653= (p.V653=) ( ENST00000252444.10, ENST00000455727.6, ENST00000535915.5, ENST00000545707.5, ENST00000557933.5, ENST00000558013.5, ENST00000558518.6, ENST00000560467.2 )
APOB p.Glu4181Ter (p.E4181*) ( ENST00000233242.5 )
APOB p.Glu4181Lys (p.E4181K) ( ENST00000233242.5 )
MTTP c.-101-478G>T ( ENST00000457717.6, ENST00000511045.6 )
FABP2 p.Thr55Ser (p.T55S) ( ENST00000274024.4 )
FABP2 p.Thr55Ala (p.T55A) ( ENST00000274024.4 )
FABP2 p.Thr55Pro (p.T55P) ( ENST00000274024.4 )
LPL S474*
APOA5 p.Ser19Leu (p.S19L) ( ENST00000227665.9, ENST00000542499.5, ENST00000673688.1 )
APOA5 p.Ser19Trp (p.S19W) ( ENST00000227665.9, ENST00000542499.5, ENST00000673688.1 )
NC_000015.10:g.58431476C>T ( ENST00000356113.10, ENST00000414170.7 )
LDLR p.Val653= (p.V653=) ( ENST00000252444.10, ENST00000455727.6, ENST00000535915.5, ENST00000545707.5, ENST00000557933.5, ENST00000558013.5, ENST00000558518.6, ENST00000560467.2 )
APOB p.Glu4181Ter (p.E4181*) ( ENST00000233242.5 )
APOB p.Glu4181Lys (p.E4181K) ( ENST00000233242.5 )
FABP2 p.Thr55Ser (p.T55S) ( ENST00000274024.4 )
FABP2 p.Thr55Ala (p.T55A) ( ENST00000274024.4 )
FABP2 p.Thr55Pro (p.T55P) ( ENST00000274024.4 )
MTTP c.-101-478G>T ( ENST00000457717.6, ENST00000511045.6 )
LPL S474* - Associated Disease
- Hashimoto Disease
- Source Database
- DisGeNET
- Description
- We analyzed the associations of seven polymorphisms of genes involved in lipid metabolism (APOA5 rs3135506, APOB rs1042031, FABP2 rs1799883, LDLR rs5925, LIPC rs1800588, LPL rs328, and MTTP rs1800591) with blood pressure and lipid values in Mexican hypertensive (HT) patients.
- Pubmed
- 25587205
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2014
Drugs