Annotation Detail
Information
- Associated Genes
- LEPR
- Associated Variants
-
LEPR p.Gln223Arg (p.Q223R)
(
ENST00000344610.12,
ENST00000371058.1,
ENST00000371060.7,
ENST00000616738.4,
ENST00000371059.7,
ENST00000349533.11 )
LEPR p.Gln223Arg (p.Q223R) ( ENST00000344610.12, ENST00000349533.11, ENST00000371058.1, ENST00000371059.7, ENST00000371060.7, ENST00000616738.4 ) - Associated Disease
- Hyperlipidemia, Familial Combined
- Source Database
- DisGeNET
- Description
- The Gln223Arg polymorphism in the leptin receptor is associated with familial combined hyperlipidemia.
- Pubmed
- 16432543
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2006
Drugs