rs41511344, NR3C2

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.060 GeneticVariation BEFREE The S810L mutation within the human mineralocorticoid receptor (MR S810L) induces severe hypertension and switches progesterone from antagonist to agonist. 15908963 2005
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.060 GeneticVariation BEFREE Here, we screened 942 Japanese patients with hypertension for the S810L mutation in exon 6 in the MR. We did not identify the S810L mutation in our hypertensive population, indicating that S810L does not play a major role in the etiology of essential hypertension in Japanese. 16419642 2005
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.060 GeneticVariation BEFREE Identification of steroid ligands able to inactivate the mineralocorticoid receptor harboring the S810L mutation responsible for a severe form of hypertension. 15134816 2004
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.060 GeneticVariation BEFREE A missense mutation at codon 810 (Ser --> Leu) of the mineralocorticoid receptor was recently observed in a family with early manifestation of hypertension. 15117605 2004
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.060 GeneticVariation BEFREE The severe form of hypertension caused by the activating S810L mutation in the mineralocorticoid receptor is cortisone related. 12538613 2003
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.060 GeneticVariation BEFREE We describe a mutation in the mineralocorticoid receptor (MR), S810L, that causes early-onset hypertension that is markedly exacerbated in pregnancy. 10884226 2000