Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism
0.400 AlteredExpression disease BEFREE Aging is associated with a pattern of decreased normal zona glomerulosa CYP11B2 expression and increased aldosterone-producing cell cluster expression. 28566337 2017
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism
0.400 Biomarker disease BEFREE Morphologic evaluation and CYP11B2 IHC enabled the classification of cross-sectional image-negative hyperaldosteronism into MN and DH. 28388725 2017
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism
0.400 AlteredExpression disease BEFREE Here, we identified a novel somatic deletion mutation in ATP2B3, which results in the amino acid sequences increasing intracellular calcium concentrations as reported previously, leading to increased aldosterone synthase (CYP11B2) expression and following excess aldosterone production in the APA cells. 26481629 2015
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism
0.400 GeneticVariation disease BEFREE FH-1 (glucocorticoid-remediable hyperaldosteronism) results from a chimeric gene (5'-end of CYP11B1 fused to 3'-end of CYP11B2) and accounts for ∼1% of PA. FH-3 is very rare, is caused by bilateral expression of mutant KCNJ5 and usually results in florid hyperaldosteronism requiring early bilateral adrenalectomy. 24943299 2014
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism
0.400 AlteredExpression disease BEFREE Somatic mutations of the selectivity filter of the Kir3.4 channel in APA results in loss of selectivity for K(+) and entry of sodium, resulting in membrane depolarization, calcium mobilization, increased CYP11B2 expression, and hyperaldosteronism. 24248457 2014
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism
0.400 Biomarker disease BEFREE The new inhibitors of CYP11B2 are already existing drugs that could be used either in the treatment of hyperaldosteronism-related diseases or as lead compounds that could further be optimised to achieve safer and selective inhibitors of aldosterone synthase. 21193036 2011
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism
0.400 AlteredExpression disease BEFREE We propose that a digenic effect leads to increased aldosterone production, with inefficient 11beta-hydroxylation causing a long-term increase in ACTH drive to the adrenal gland and enhanced expression of CYP11B2, thereby resulting in chronically raised aldosterone secretion in response to factors such as angiotensin II and potassium. 18848600 2009
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism
0.400 GeneticVariation disease BEFREE Our study suggests that aldosterone synthase gene polymorphism is not associated with progression of diabetic nephropathy, but it may contribute to the development of hypertension associated with increased aldosterone secretion in type 2 diabetic patients. 18771471 2008
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism
0.400 GeneticVariation disease BEFREE We analyzed the possible association between aldosterone synthase (CYP11B2) T-344C polymorphism, which is associated with increased aldosterone activity, and the prevalence of atrial fibrillation (AF) in 196 consecutive patients who had symptomatic systolic heart failure (HF; left ventricular ejection fraction <40%) for > or =3 months before recruitment. 18638595 2008
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism
0.400 AlteredExpression disease BEFREE The increased aldosterone concentration and the presence of aldosterone synthase expression suggest that aldosterone may be locally produced and secreted in thyroid tissue. 17437517 2007
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism
0.400 GeneticVariation disease BEFREE We have previously reported that polymorphic variation in the 5' promoter region (-344C/T) of the gene encoding aldosterone synthase (CYP11B2) is associated with increased aldosterone metabolite excretion and with hypertension associated with a raised aldosterone to renin ratio (ARR). 15134824 2004
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism
0.400 GeneticVariation disease BEFREE A biallelic gene polymorphism of CYP11B2 predicts increased aldosterone to renin ratio in selected hypertensive patients. 12788845 2003
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism
0.400 GeneticVariation disease BEFREE There is recent evidence suggesting that hyperaldosteronism relates to aldosterone synthase genetic polymorphism, and also that increased angiotensin II stimulation of the adrenal glands appears to paradoxically upregulate the receptors increasing angiotensin II sensitivity. 11791020 2002
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism
0.400 Biomarker disease LHGDN Familial varieties of primary aldosteronism. 11903322 2001
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism
0.400 Biomarker disease CTD_human Dexamethasone-suppressible hypertension. 11085685 2000
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism
0.400 GeneticVariation disease BEFREE Recently, the biallelic -344T/C polymorphism of the aldosterone synthase gene was associated with increased aldosterone levels, arterial hypertension, diastolic dysfunction, and left ventricular dilatation. 10720582 2000
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism
0.400 Biomarker disease BEFREE In the same subjects, we sought the chimeric CYP11B1/CYP11B2 that is candidate gene for glucocorticoid-remediable hyperaldosteronism. 10323392 1999
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism
0.400 Biomarker disease BEFREE Aldosterone synthase gene in patients suffering from hyperaldosteronism. 9888592 1999
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism
0.400 GeneticVariation disease BEFREE Studies in the Milan hypertensive rat show variation at this locus, which may account for the increased steroid synthesis noted in the hypertensive strain; in man, a chimaeric gene comprising 5' regulatory regions from 11 beta-hydroxylase and 3' coding sequence from aldosterone synthase accounts for the autosomal dominant condition Dexamethasone Suppressible Hyperaldosteronism. 8713673 1996