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: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		0.080 Biomarker group BEFREE 11-β-Hydroxysteroid dehydrogenase type 1 (11β-HSD1) converts cortisone to cortisol, mainly in the liver and visceral adipose tissue (VAT), and has been implicated in several metabolic disorders. 21704348 2011
CUI: C0028754
Disease: Obesity
Obesity 		0.600 Biomarker disease BEFREE 11beta-hydroxysteroid dehydrogenase type 1 (HSD11B1), which converts inactive cortisone to active cortisol, has become an emerging therapeutic target for type 2 diabetes mellitus and obesity. 19571556 2009
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.040 AlteredExpression disease LHGDN 11beta-hydroxysteroid dehydrogenase type 1 activity predicts the effects of glucocorticoids on bone. 12915682 2003
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: 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: C2936179
Disease: Obesity, Visceral
Obesity, Visceral 		0.330 Biomarker phenotype BEFREE 11β-Hydroxysteroid dehydrogenase type 1 (HSD11B1), which converts inactive glucocorticoid to active glucocorticoid, plays a critical role in the pathogenesis of visceral obesity, metabolic syndrome, and diabetes. 21869537 2011
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.080 Biomarker group BEFREE 11β-Hydroxysteroid dehydrogenase type 1 (HSD11B1), which converts inactive glucocorticoid to active glucocorticoid, plays a critical role in the pathogenesis of visceral obesity, metabolic syndrome, and diabetes. 21869537 2011
CUI: C0011847
Disease: Diabetes
Diabetes 		0.070 Biomarker disease BEFREE 11β-Hydroxysteroid dehydrogenase type 1 (HSD11B1), which converts inactive glucocorticoid to active glucocorticoid, plays a critical role in the pathogenesis of visceral obesity, metabolic syndrome, and diabetes. 21869537 2011
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		0.010 AlteredExpression phenotype BEFREE GDM placental 11β-HSD1 levels decreased while 11β-HSD2 increased. 22469619 2012
CUI: C0001622
Disease: Adrenal Gland Hyperfunction
Adrenal Gland Hyperfunction 		0.060 AlteredExpression phenotype BEFREE Hypercortisolemia at the systemic (Cushing's syndrome) or local levels (due to adipose-specific overproduction via 11β-hydroxysteroid dehydrogenase 1) results in the preferential expansion of central, especially visceral fat depots. 23735216 2014
CUI: C0024530
Disease: Malaria
Malaria 		0.010 Biomarker disease BEFREE Malaria-induced antibody production and pathology were unaltered by 11β-HSD1 deficiency though plasma levels of IL-4, IL-6 and TNF-α were slightly affected by 11β-HSD1 deficiency, dependent on the infecting parasite. 29062028 2017
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma 		0.010 AlteredExpression disease BEFREE Craniopharyngiomas are associated with enhanced 11β-HSD1 activity compared to other diagnostic hypopituitary groups, and this may contribute to the adverse phenotypic and metabolic features seen in this condition. 29975580 2018
CUI: C0001622
Disease: Adrenal Gland Hyperfunction
Adrenal Gland Hyperfunction 		0.060 GeneticVariation phenotype BEFREE HSD11B1 polymorphisms predicted bone mineral density and fracture risk in postmenopausal women without a clinically apparent hypercortisolemia. 19651257 2009
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.080 AlteredExpression disease BEFREE HSD11B1 expression in visceral and subcutaneous adipose tissue was increased in PCOS patients compared to controls (p<0.05). 21147223 2011
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.080 GeneticVariation disease BEFREE HSD11B1 genotypes (as single SNPs and as the combination of the two minor allele SNPs) were not associated with PCOS. 21622477 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 AlteredExpression group BEFREE 11β-HSD1 expression in pretreatment biopsy specimens positively correlated with primary tumour size. 22719058 2012
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.040 AlteredExpression disease BEFREE 11β-HSD-1 and GCR expression in MAT were found to be significantly increased in the obese CAD group compared with controls (p < 0.05). 23009206 2012
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.020 Biomarker disease BEFREE 11β-HSD1 may be an important enzyme in the pathogenesis of fatty liver and visceral obesity and a promising target for their treatment. 27715400 2016
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.010 Biomarker disease BEFREE 11β-HSD1 may be an important enzyme in the pathogenesis of fatty liver and visceral obesity and a promising target for their treatment. 27715400 2016
CUI: C2936179
Disease: Obesity, Visceral
Obesity, Visceral 		0.330 Biomarker phenotype BEFREE 11β-HSD1 may be an important enzyme in the pathogenesis of fatty liver and visceral obesity and a promising target for their treatment. 27715400 2016
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.380 Biomarker group BEFREE 11βHSD1 amplifies glucocorticoid action in cells and contributes to hypertension through direct and indirect effects on the kidney and vasculature. 29138984 2017
CUI: C1397307
Disease: Cardiac fibrosis
Cardiac fibrosis 		0.020 Biomarker disease BEFREE 11β-HSD1 inhibition ameliorates diabetes-induced cardiomyocyte hypertrophy and cardiac fibrosis through modulation of EGFR activity. 29221204 2017