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
- diarrhea
- Source Database
- DisGeNET
- Description
- The Q223R leptin receptor mutation results in increased susceptibility of children and adults to E. histolytica, one of the leading causes of diarrhea morbidity and mortality in children of the developing world.
- Pubmed
- 25516614
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2015
Drugs