Annotation Detail
Information
- Associated Genes
- LDLR
- Associated Variants
-
FABP2 p.Thr55Ser (p.T55S)
(
ENST00000274024.4 )
FABP2 p.Thr55Ala (p.T55A) ( ENST00000274024.4 )
FABP2 p.Thr55Pro (p.T55P) ( ENST00000274024.4 )
ABCA1 p.Arg219Lys (p.R219K) ( ENST00000374736.8, ENST00000423487.6, ENST00000678995.1 )
FABP2 p.Thr55Ser (p.T55S) ( ENST00000274024.4 )
FABP2 p.Thr55Ala (p.T55A) ( ENST00000274024.4 )
FABP2 p.Thr55Pro (p.T55P) ( ENST00000274024.4 )
ABCA1 p.Arg219Lys (p.R219K) ( ENST00000374736.8, ENST00000423487.6, ENST00000678995.1 ) - Associated Disease
- Hypercholesterolemia, Familial
- Source Database
- DisGeNET
- Description
- We investigated Apo E (2, 3, 4), MTP (-493G/T), Apo B (-516C/T), Apo A-V (-1131T/C), HL (-514C/T and -250G/A), FABP-2 (A54T), LPL (D9N, N291S, S447X) and ABCA1 (R219K) polymorphisms in 221 unrelated FH index cases and 349 FH relatives with defined LDL-R gene mutations.
- Pubmed
- 15135251
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.462660055576745
- Year of publication
- 2004
Drugs