Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 GeneticVariation group BEFREE It has been reported that the G534A(Glu178/Glu) polymorphism in the HSD11B2 gene is associated with hypertension. 22278213 2012
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 Biomarker group BEFREE Licorice root, whose active ingredient, glycerrhetinic acid (GA), inhibits renal 11β-HSD2, and thereby causes hypertension in some individuals. 28624548 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 GeneticVariation group BEFREE Mutations generating inactive enzymes have been described in the HSD11B2 gene in the congenital syndrome of apparent mineralocorticoid excess (AME)--a low renin form of hypertension. 9247735 1997
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 GeneticVariation group BEFREE Mutations in the HSD11K (HSD11B2) gene encoding this isozyme cause a genetic form of hypertension, the syndrome of apparent mineralocorticoid excess (AME). 8865170 1996
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 GeneticVariation group BEFREE Mutations in the gene encoding 11beta-HSD2 (HSD11B2) account for an inherited form of hypertension, the syndrome of "Apparent Mineralocorticoid Excess" (AME) where cortisol induces hypertension and hypokalaemia. 15134813 2004
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 GeneticVariation group BEFREE Mutations in the HSD11B2 gene encoding the kidney (11-HSD2) isozyme of 11beta-hydroxysteroid dehydrogenase cause the syndrome of apparent mineralocorticoid excess, a form of salt-sensitive hypertension. 11196453 2000
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 GeneticVariation group BEFREE Mutations of the gene encoding 11beta-HSD-2 are responsible for the syndrome of apparent mineralocorticoid excess, in which cortisol illicitly occupies mineralocorticoid receptors, causing hypertension and hypokalaemia. 9370341 1997
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 Biomarker group BEFREE Our data suggest that HSD11B2 is associated with hypertension in our black subjects with hypertensive end-stage renal disease. 8794836 1996
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 Biomarker group BEFREE Our data suggest that kidney-specific deficiency of 11β-HSD2 leads to salt-dependent hypertension, which is attributed to mineralocorticoid receptor-epithelial sodium channel-Na<sup>+</sup>-Cl<sup>-</sup> cotransporter activation in the kidney, and provides evidence that renal dysfunction is essential for developing the phenotype of apparent mineralocorticoid excess. 28559392 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 AlteredExpression group BEFREE Post-translational histone methylation at different histone 3 lysine residues was also observed to control the expression of genes related to AH as lysine-specific demethylase-1(LSD1), HSD11B2, and epithelial sodium channel subunit α (SCNN1A). 25035152 2015
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 Biomarker group CTD_human Recently, we have studied an unusual patient with mild low-renin hypertension and a homozygous mutation in the HSD11B2 gene. 9707624 1998
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 GeneticVariation group BEFREE Recently, we have studied an unusual patient with mild low-renin hypertension and a homozygous mutation in the HSD11B2 gene. 9707624 1998
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 Biomarker group BEFREE Serum F/E ratio and cortisone allow to identify partial 11βHSD2 deficiencies, as occurs in heterozygous subjects, who would be susceptible to develop arterial hypertension. 29617893 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 Biomarker group BEFREE Statistical analyses using the affected sib-pair method did not show significant linkage between the 11beta-HSD2 microsatellite marker and hypertension. 9856363 1998
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 Biomarker group BEFREE The hypertension phenotype is also epigenetically modulated by HSD11B2 methylation in subjects heterozygous for the mutation. 26126204 2015
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 GeneticVariation group BEFREE The aim of the study was to analyze the HSD11B2 gene to assess whether some of its variants might be involved in hypertension. 16109323 2005
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 AlteredExpression group BEFREE The current study was conducted to determine if reduced 11β-HSD2 activity is also associated with having resistant HTN. 28180242 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 Biomarker group BEFREE The deactivation of glucocorticoid by 11βHSD2 controls ligand access to glucocorticoid and mineralocorticoid receptors: loss of function promotes salt retention and hypertension. 29138984 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 Biomarker group LHGDN The decreased activity of 11beta-HSD2 increases the intracellular availability of cortisol, which might be relevant for the pathogenesis of hypertension and preeclampsia. 12911547 2003
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 GeneticVariation group BEFREE The enhanced cortisol levels are backed by recent genetic findings on HSD11B2 polymorphisms and may promote hypertension. 18337758 2008
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 AlteredExpression group BEFREE The isozyme 11beta-HSD2 is selectively expressed in mineralocorticoid target tissues and its activity is reduced in various disease states with abnormal sodium retention and hypertension, including the apparent mineralocorticoid excess. 25133511 2014
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 GeneticVariation group BEFREE The syndrome of AME is a rare form of juvenile hypertension in which 11-HSD is defective. 9034789 1997
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 GeneticVariation group BEFREE The syndrome of apparent mineralocorticoid excess (AME) is an inherited form of hypertension in which 11 beta-hydroxysteroid dehydrogenase (11 beta-HSD) is defective. 8979285 1997
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 Biomarker group CTD_human The syndrome of apparent mineralocorticoid excess (AME) is an inherited form of human hypertension thought to result from a deficiency of 11 beta-hydroxysteroid dehydrogenase (11 beta HSD). 7670488 1995
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 Biomarker group BEFREE The syndrome of apparent mineralocorticoid excess (AME) is an inherited form of human hypertension thought to result from a deficiency of 11 beta-hydroxysteroid dehydrogenase (11 beta HSD). 7670488 1995