Annotation Detail
Information
- Associated Genes
- EXOSC4
- Associated Variants
-
LEPR p.Gln223Arg (p.Q223R)
(
ENST00000344610.12,
ENST00000371058.1,
ENST00000371060.7,
ENST00000616738.4,
ENST00000371059.7,
ENST00000349533.11 )
ENSG00000290230 p.Arg222Gln (p.R222Q), EXOSC4 p.Arg222Gln (p.R222Q) ( ENST00000316052.6 )
LEPR p.Gln223Arg (p.Q223R) ( ENST00000344610.12, ENST00000349533.11, ENST00000371058.1, ENST00000371059.7, ENST00000371060.7, ENST00000616738.4 )
ENSG00000290230 p.Arg222Gln (p.R222Q), EXOSC4 p.Arg222Gln (p.R222Q) ( ENST00000316052.6 ) - Associated Disease
- eclampsia
- Source Database
- DisGeNET
- Description
- In this retrospective case-control study, 103 patients with PIH [gestational hypertension (GH) n = 39; preeclampsia n = 27; eclampsia n = 5; HELLP n = 32] and 100 controls were analyzed for the LEP tetranucleotide repeat (TTTC)(n) and the leptin receptor (LEPR) R223Q and PPARgamma2 P12A substitutions.
- Pubmed
- 20070288
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2010
Drugs