Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.320 GeneticVariation disease UNIPROT
CUI: C3553382
Disease: CORTISONE REDUCTASE DEFICIENCY 2
CORTISONE REDUCTASE DEFICIENCY 2 		0.300 CausalMutation disease CLINVAR
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		0.010 GeneticVariation disease BEFREE Defects in the HSD11 gene encoding 11 beta-hydroxysteroid dehydrogenase are not found in patients with apparent mineralocorticoid excess or 11-oxoreductase deficiency. 8370690 1993
CUI: C3553382
Disease: CORTISONE REDUCTASE DEFICIENCY 2
CORTISONE REDUCTASE DEFICIENCY 2 		0.300 Biomarker disease MGD 11beta-hydroxysteroid dehydrogenase type 1 knockout mice show attenuated glucocorticoid-inducible responses and resist hyperglycemia on obesity or stress. 9405715 1997
CUI: C4329210
Disease: 11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency
11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency 		0.200 Biomarker disease MGD 11beta-hydroxysteroid dehydrogenase type 1 knockout mice show attenuated glucocorticoid-inducible responses and resist hyperglycemia on obesity or stress. 9405715 1997
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.380 Biomarker group CTD_human The role of 11 beta-hydroxysteroid dehydrogenase in the pathogenesis of hypertension. 9683905 1998
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.380 Biomarker group BEFREE A genetic association of a HSD11 B2 flanking microsatellite and hypertension in black patients with end-stage renal disease has been reported. 10726708 2000
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		0.010 Biomarker disease BEFREE A genetic association of a HSD11 B2 flanking microsatellite and hypertension in black patients with end-stage renal disease has been reported. 10726708 2000
CUI: C0342488
Disease: Mineralocorticoid Excess Syndrome, Apparent
Mineralocorticoid Excess Syndrome, Apparent 		0.010 GeneticVariation disease BEFREE Inhibition by xenobiotics such as liquorice or mutations in the HSD11 B2 gene, as occur in the rare monogenic hypertensive syndrome of apparent mineralocorticoid excess (AME), result in a compromised 11 betaHSD2 enzyme activity, which in turn leads to overstimulation of the MR by cortisol, sodium retention, hypokalaemia, low plasma renin and aldosterone concentrations, and hypertension. 10726708 2000
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		0.010 Biomarker disease BEFREE A genetic association of a HSD11 B2 flanking microsatellite and hypertension in black patients with end-stage renal disease has been reported. 10726708 2000
CUI: C3553382
Disease: CORTISONE REDUCTASE DEFICIENCY 2
CORTISONE REDUCTASE DEFICIENCY 2 		0.300 Biomarker disease MGD Phenotypic analysis of mice bearing targeted deletions of 11beta-hydroxysteroid dehydrogenases 1 and 2 genes. 11165006 2001
CUI: C4329210
Disease: 11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency
11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency 		0.200 Biomarker disease MGD Phenotypic analysis of mice bearing targeted deletions of 11beta-hydroxysteroid dehydrogenases 1 and 2 genes. 11165006 2001
CUI: C3553382
Disease: CORTISONE REDUCTASE DEFICIENCY 2
CORTISONE REDUCTASE DEFICIENCY 2 		0.300 Biomarker disease MGD Lack of tissue glucocorticoid reactivation in 11beta -hydroxysteroid dehydrogenase type 1 knockout mice ameliorates age-related learning impairments. 11274359 2001
CUI: C4329210
Disease: 11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency
11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency 		0.200 Biomarker disease MGD Lack of tissue glucocorticoid reactivation in 11beta -hydroxysteroid dehydrogenase type 1 knockout mice ameliorates age-related learning impairments. 11274359 2001
CUI: C3553382
Disease: CORTISONE REDUCTASE DEFICIENCY 2
CORTISONE REDUCTASE DEFICIENCY 2 		0.300 Biomarker disease MGD Improved lipid and lipoprotein profile, hepatic insulin sensitivity, and glucose tolerance in 11beta-hydroxysteroid dehydrogenase type 1 null mice. 11546766 2001
CUI: C4329210
Disease: 11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency
11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency 		0.200 Biomarker disease MGD Improved lipid and lipoprotein profile, hepatic insulin sensitivity, and glucose tolerance in 11beta-hydroxysteroid dehydrogenase type 1 null mice. 11546766 2001
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.060 AlteredExpression disease BEFREE Plasma levels of high-density lipoprotein (HDL) cholesterol are strongly inversely associated with atherosclerotic cardiovascular disease, and overexpression of HDL proteins, such as apolipoprotein A-I in animals, reduces progression and even induces regression of atherosclerosis. 11943562 2002
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.060 AlteredExpression disease BEFREE Plasma levels of high-density lipoprotein (HDL) cholesterol are strongly inversely associated with atherosclerotic cardiovascular disease, and overexpression of HDL proteins, such as apolipoprotein A-I in animals, reduces progression and even induces regression of atherosclerosis. 11943562 2002
CUI: C0001430
Disease: Adenoma
Adenoma 		0.020 AlteredExpression group LHGDN 11beta-Hydroxysteroid dehydrogenase types 1 and 2 are up- and downregulated in cortisol-secreting adrenal adenomas. 12109593 2002
CUI: C0028754
Disease: Obesity
Obesity 		0.600 GeneticVariation disease BEFREE However, weak associations between HSD11B1 genotype, increased 11beta-HSD1 activity, and W:H ratio suggest that polymorphic variability at the HSD11B1 locus may influence susceptibility to central obesity through enhanced 11beta-HSD1 activity (E to F conversion) in visceral adipose tissue. 12414862 2002
CUI: C3553382
Disease: CORTISONE REDUCTASE DEFICIENCY 2
CORTISONE REDUCTASE DEFICIENCY 2 		0.300 Biomarker disease MGD Foetal lung maturation in 11beta-hydroxysteroid dehydrogenase type 1 knockout mice. 12439781 2002
CUI: C4329210
Disease: 11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency
11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency 		0.200 Biomarker disease MGD Foetal lung maturation in 11beta-hydroxysteroid dehydrogenase type 1 knockout mice. 12439781 2002
CUI: C0001430
Disease: Adenoma
Adenoma 		0.020 AlteredExpression group BEFREE Two isozymes of 11 beta-hydroxysteroid dehydrogenase, types 1 and 2 (HSD11B1 and HSD11B2), are known to modulate glucocorticoid levels in other tissues and might influence circulating levels of active and inactive glucocorticoids if they were expressed in adrenal adenomas. 12574226 2003
CUI: C0001624
Disease: Adrenal Gland Neoplasms
Adrenal Gland Neoplasms 		0.020 AlteredExpression group BEFREE There were no differences in HSD11B1 mRNA levels among adrenal tumor groups. 12574226 2003
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.070 GeneticVariation disease BEFREE We identified intronic mutations in HSD11B1 that resulted in reduced gene transcription in three individuals with CRD. 12858176 2003