Annotation Detail
Information
- Associated Genes
- NR3C2
- Associated Variants
-
NR3C2 p.Ser810Leu (p.S810L)
(
ENST00000344721.8,
ENST00000358102.8,
ENST00000511528.1,
ENST00000512865.5,
ENST00000625323.2 )
NR3C2 p.Ser810Leu (p.S810L) ( ENST00000344721.8, ENST00000358102.8, ENST00000511528.1, ENST00000512865.5, ENST00000625323.2 ) - Associated Disease
- Hypertensive disease
- Source Database
- DisGeNET
- Description
- Identification of steroid ligands able to inactivate the mineralocorticoid receptor harboring the S810L mutation responsible for a severe form of hypertension.
- Pubmed
- 15134816
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0306181878499334
- Year of publication
- 2004
Drugs