Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin
0.010 AlteredExpression disease BEFREE Here, we found a significant upregulation of 11βHSD2 protein in skin cancer cells when compared to normal skin cells, suggesting a role for this enzyme in the multifactorial process of skin cancer development. 30302860 2019
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.010 GeneticVariation disease BEFREE 4/17 individuals (approximately 25% of cases) were found to suffer in fact from pseudo-Bartter syndrome resulting from congenital chloride diarrhea due to a novel homozygous mutation in the SLC26A3 gene, Pendred syndrome due to a known homozygous mutation in SLC26A4, Cystic Fibrosis (CF) due to a novel mutation in CFTR and apparent mineralocorticoid excess syndrome due to a novel homozygous loss of function mutation in HSD11B2 gene.1 case (5%) remained unsolved. 30760291 2019
CUI: C0032584
Disease: polyps
polyps
0.010 Biomarker phenotype BEFREE This study investigates the role of 11β-HSD1 and 11β-HSD2 on the glucocorticoid response of CRSwNP patients and the pathogenic mechanism of these polyps. 30446829 2019
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency
0.010 AlteredExpression disease BEFREE Vitamin D deficiency reduced the expression of the glucocorticoid-inactivating enzyme Hsd11b2 in the female placenta, but did not alter maternal glucocorticoid levels, feto-placental weights, or placental expression of other glucocorticoid-related genes at mid-gestation. 31477207 2019
CUI: C0233794
Disease: Memory impairment
Memory impairment
0.010 Biomarker phenotype BEFREE However, brain-specific HSD2 removal (HSD2BKO) also generated adult phenotypes of depressive-like behaviour and memory deficits, demonstrating the importance of fetal brain HSD2 expression in development. 30884491 2019
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma
0.010 Biomarker disease BEFREE Overall, these studies highlight for the first time a potential novel role for 11βHSD2 in NMSC development and may allow for new GC treatment approaches capable of avoiding deactivation by the enzyme. 30302860 2019
CUI: C1112472
Disease: Aeromonas hydrophila infection
Aeromonas hydrophila infection
0.010 AlteredExpression disease BEFREE Therefore, the aim of this study was to evaluate the effect of Aeromonas hydrophila infection on individual behaviour and brain expression of genes related to stress (slc6a2, hsp90, hspa12a, hsd20b, hsd11b2, crh) in silver catfish (Rhamdia quelen). 31078710 2019
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer
0.010 AlteredExpression disease BEFREE In addition, 11βHSD2 activity, catalysing 11-ketotestosterone biosynthesis, was shown to be key in the production of prostate specific antigen and in the progression of prostate cancer to castration resistant prostate cancer. 30825506 2019
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.010 Biomarker group BEFREE Patients with chronic kidney disease (CKD) have dysregulated cortisol metabolism secondary to changes in 11β-hydroxysteroid dehydrogenase (11β-HSD) enzymes. 30358903 2019
CUI: C1739135
Disease: Progression of prostate cancer
Progression of prostate cancer
0.010 AlteredExpression disease BEFREE In addition, 11βHSD2 activity, catalysing 11-ketotestosterone biosynthesis, was shown to be key in the production of prostate specific antigen and in the progression of prostate cancer to castration resistant prostate cancer. 30825506 2019
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: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa
0.010 AlteredExpression disease BEFREE Given the drastic metabolic disturbances in acutely underweight AN our findings could be interpreted as disturbed cortisol incorporation or altered activity of 11-β-HSD-enzymes in the hair follicle. 29309960 2018
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.010 Biomarker disease BEFREE A consensus on the role of osimertinib in non-small cell lung cancer from the AME Lung Cancer Collaborative Group. 30174832 2018
CUI: C0011847
Disease: Diabetes
Diabetes
0.010 AlteredExpression disease BEFREE Our data suggest that age and apparent 11β-HSD2 activity modulate the association of copeptin with insulin resistance at the population level but not MeTS or diabetes. 29235050 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 AlteredExpression group BEFREE Our data suggest that age and apparent 11β-HSD2 activity modulate the association of copeptin with insulin resistance at the population level but not MeTS or diabetes. 29235050 2018
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.010 Biomarker disease BEFREE Differences between ATA, AACE/ACE/AME and ACR TI-RADS ultrasound classifications performance in identifying cytological high-risk thyroid nodules. 29626008 2018
CUI: C0410480
Disease: Avascular Necrosis of Femur Head
Avascular Necrosis of Femur Head
0.010 AlteredExpression phenotype BEFREE The current study demonstrated that treatment with antler extract has a therapeutic effect on ANFH induced by steroids in rabbits and may regulate the expression of 11β-HSD in femoral heads and osteoblasts, as well as promoting the proliferation of osteoblasts. 29434691 2018
CUI: C0020175
Disease: Hunger
Hunger
0.010 Biomarker phenotype BEFREE Here we show that chemogenetic activation of aldosterone-sensitive neurons that express 11β-hydroxysteroid dehydrogenase type 2 (HSD2) in the nucleus of the solitary tract is sufficient to drive consumption of sodium-containing solutions in mice, independently of thirst or hunger. 27918529 2017
CUI: C0020625
Disease: Hyponatremia
Hyponatremia
0.010 AlteredExpression phenotype BEFREE These HSD2-positive neurons are necessary for full expression of sodium appetite and have distinct downstream targets that are activated during sodium depletion. 27918529 2017
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome
0.010 AlteredExpression disease BEFREE Results have demonstrated a significant downregulation in 11β-HSD2 expression in IBD patients compared with controls (13.8 ± 17.1 au vs. 318.4 ± 521.1 au, p = 0.01), whereas levels of 11β-HSD1 did not appear to vary across the two groups. 28932959 2017
CUI: C0025202
Disease: melanoma
melanoma
0.010 Biomarker disease BEFREE 11β-HSDs were detectable in human skin SCCs and melanoma. 28797028 2017
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome
0.010 AlteredExpression disease BEFREE GR and 11β-HSD expression changes in the acute phase of KD are important factors for regulating inflammatory responses in KD. 28567088 2017
CUI: C0036690
Disease: Septicemia
Septicemia
0.010 GeneticVariation disease BEFREE As part of the AME evidence series on sepsis, we conducted a systematic review of all randomized controlled EGDT trials. 28275488 2017
CUI: C0243026
Disease: Sepsis
Sepsis
0.010 GeneticVariation disease BEFREE As part of the AME evidence series on sepsis, we conducted a systematic review of all randomized controlled EGDT trials. 28275488 2017
CUI: C0476237
Disease: Metabolic symptoms
Metabolic symptoms
0.010 Biomarker phenotype BEFREE Selective inhibition of 11β-HSD2 is generally detrimental to health because the accumulation of cortisol can cause metabolic symptoms such as apparent mineralocorticoid excess (AME), fetal developmental defects and lower testosterone levels in males. 28366868 2017