Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.070 AlteredExpression group BEFREE While DMS-79 cells harbor additional defects in glucocorticoid signaling, these data suggest that expression of 11beta-HSD2 might contribute to the development of the glucocorticoid-resistant phenotype of some ACTH-producing tumors. 9883991 1998
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		0.800 Biomarker disease BEFREE Whereas the first patients described with AME had a severe form of hypertension and metabolic derangements, with an increased urinary ratio of cortisol (THF+5alphaTHF) to cortisone (THE) metabolites, more subtle effects of mild 11 beta HSD2 deficiency on blood pressure have recently been observed. 10726708 2000
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.100 Biomarker disease BEFREE Whereas mutations or inhibition of 11βHSD2 by licorice have been clearly shown to produce a congenital or acquired syndrome of mineralocorticoid excess, the questions remaining are the extent to which subtle abnormalities in MR/11βHSD2 mechanisms may contribute to essential hypertension. 19909806 2010
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism 		0.070 Biomarker disease BEFREE Whereas mutations or inhibition of 11βHSD2 by licorice have been clearly shown to produce a congenital or acquired syndrome of mineralocorticoid excess, the questions remaining are the extent to which subtle abnormalities in MR/11βHSD2 mechanisms may contribute to essential hypertension. 19909806 2010
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		0.010 Biomarker disease BEFREE Western blot analysis of the leukemic cells of the patient additionally revealed that the corresponding AME fusion protein products were expressed at high levels, and that these cells also prominently expressed CCAAT/enhancer-binding protein α, the repression of which has been reported to be involved in leukemogenesis mediated by AME. 28693140 2017
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.020 AlteredExpression disease BEFREE We therefore investigated expression and enzymatic activity of 11β-HSD isozymes in human OS tissue, determined whether 11β-HSD expression has prognostic value in the response to therapy, and evaluated the potential use of synthetic glucocorticoids to selectively target OS cells. 22719058 2012
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.020 AlteredExpression disease BEFREE We therefore investigated expression and enzymatic activity of 11β-HSD isozymes in human OS tissue, determined whether 11β-HSD expression has prognostic value in the response to therapy, and evaluated the potential use of synthetic glucocorticoids to selectively target OS cells. 22719058 2012
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.020 AlteredExpression disease BEFREE We therefore investigated expression and enzymatic activity of 11β-HSD isozymes in human OS tissue, determined whether 11β-HSD expression has prognostic value in the response to therapy, and evaluated the potential use of synthetic glucocorticoids to selectively target OS cells. 22719058 2012
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.020 Biomarker disease BEFREE We tested for the first time, the novel and potent 17β-HSD2 inhibitor, compound 24 (C24), to explore the therapeutic potential of a 17β-HSD2 inhibition in an ovariectomy (ovx)-induced rat model of bone loss. 31185280 2019
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.010 GeneticVariation disease BEFREE We previously reported that a common nonsynonymous polymorphism, AKR1C3 2 in the gene encoding the enzyme 3α-HSD2/17β-HSD5, and a synonymous single nucleotide polymorphism (SNP), rs248793, in SRD5A1, which encodes 5α-reductase, were associated with alcohol dependence (AD). 24838369 2014
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.020 AlteredExpression group BEFREE We hypothesized that in inflamed tissues of patients suffering from inflammatory bowel diseases 11beta-HSD1 is upregulated whereas 11beta-HSD2 is downregulated. 19022342 2009
CUI: C0008497
Disease: Choriocarcinoma
Choriocarcinoma 		0.040 AlteredExpression disease BEFREE We have now analyzed the proximal 1788 nucleotides (nt) of the 5' flanking region of the HSD11K gene to identify transcriptional regulatory elements that are active in JEG-3 human choriocarcinoma cells. 8865170 1996
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.700 Biomarker group BEFREE We have investigated the role of HSD11B2 in hypertension in 377 genetically homogeneous essential hypertensives from North Sardinia. 15673310 2005
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		0.800 Biomarker disease CTD_human We have analysed the gene encoding the kidney isozyme of 11 beta HSD and found mutations on both alleles in nine of 11 AME patients (eight of nine kindreds). 7670488 1995
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		0.800 GeneticVariation disease UNIPROT We have analysed the gene encoding the kidney isozyme of 11 beta HSD and found mutations on both alleles in nine of 11 AME patients (eight of nine kindreds). 7670488 1995
CUI: C4524092
Disease: Chronic rhinosinusitis with nasal polyps
Chronic rhinosinusitis with nasal polyps 		0.010 AlteredExpression disease BEFREE We found a strong correlation between the response to glucocorticoids and the ratio of 11β-HSD1/11β-HSD2, which could be used as a marker in predicting the level of tissue response to glucocorticoid therapy in CRSwNP. 30446829 2019
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		0.800 Biomarker disease BEFREE We find that mutations that allow the formation of an inactive dimer, alter substrate/coenzyme binding, or impair structural stability of HSD11B2 yield severe AME. 29229831 2017
CUI: C0015930
Disease: Fetal Distress
Fetal Distress 		0.010 Biomarker disease LHGDN We conclude that, in small preterm infants, reduced placental 11 beta-HSD2 function is associated with low relative birth weight and severe fetal distress. 12519895 2003
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.700 AlteredExpression group LHGDN Variable activity of 11 beta HSD2 is relevant for blood pressure control and hypertension. 15489962 2004
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.700 AlteredExpression group BEFREE Variable activity of 11 beta HSD2 is relevant for blood pressure control and hypertension. 15489962 2004
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.400 Biomarker phenotype RGD Uteroplacental insufficiency alters nephrogenesis and downregulates cyclooxygenase-2 expression in a model of IUGR with adult-onset hypertension. 17272666 2007
CUI: C0023343
Disease: Leprosy
Leprosy 		0.020 AlteredExpression disease BEFREE Urine, blood and incisional skin biopsy samples from site of lesions were collected from 49 newly diagnosed untreated leprosy cases in T1R and 51 cases not in reaction (NR). mRNA expression levels of genes encoding 11 β HSD I & II in skin biopsy samples were determined by realtime PCR. 24189521 2014
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		0.800 Biomarker disease CTD_human Typical patients with AME have defective 11beta-HSD2 activity, as evidenced by an abnormal ratio of cortisol to cortisone metabolites and by an exceedingly diminished ability to convert [11-3H]cortisol to cortisone. 9707624 1998
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.010 AlteredExpression disease LHGDN Type 2 11beta-hydroxysteroid dehydrogenase activity in human ovarian cancer. 17028049 2006
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess 		0.800 GeneticVariation disease UNIPROT Two homozygous mutations in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess. 12788846 2003