Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: C0028754
Disease: Obesity
Obesity 		0.600 GeneticVariation disease BEFREE The mechanism of this up-regulation remains uncertain; polymorphisms in the HSD11B1 gene have been associated with metabolic complications of obesity, including hypertension and type 2 diabetes, but not with obesity per se. 17343766 2007
CUI: C0028754
Disease: Obesity
Obesity 		0.600 GeneticVariation disease BEFREE A novel SNP, rs3753519, was strongly associated with obesity and this SNP was the only statistically significant HSD11B1 gene SNP remaining after a Bonferroni correction (odds ratio=1.97 for allelic effect, 95% confidence interval 1.23-3.16; P=0.004 and Bonferroni corrected P=0.046). 22310475 2012
CUI: C0028754
Disease: Obesity
Obesity 		0.600 GeneticVariation disease BEFREE Polymorphisms in HSD11B1, the gene encoding 11β-hydroxysteroid dehydrogenase type 1 enzyme, have been associated with obesity, metabolic syndrome, and type 2 diabetes. 21117953 2011
CUI: C0028754
Disease: Obesity
Obesity 		0.600 GeneticVariation disease BEFREE Our objective was to investigate a functional polymorphism in HSD11B1 (T-->G in the third intron rs12086634, which associates with lower 11beta-HSD1 activity) in PCOS with and without obesity. 16551740 2006
CUI: C0028754
Disease: Obesity
Obesity 		0.600 GeneticVariation disease BEFREE To investigate the relationship between 11β-hydroxysteroid dehydrogenase (HSD11B) gene type 1 and 2 and obesity in Chinese children. 24729284 2014
CUI: C0028754
Disease: Obesity
Obesity 		0.600 GeneticVariation disease BEFREE We confirmed that adipocyte 11beta-HSD1 mRNA concentrations were associated with adiposity, and showed that genetic variations in the HSD11B1 gene were associated with Type 2 diabetes mellitus, plasma insulin concentrations and insulin action, independent of obesity. 15156315 2004
CUI: C1291245
Disease: Cortisone reductase deficiency
Cortisone reductase deficiency 		0.550 GeneticVariation disease BEFREE Recently, it was proposed that a combination of the 83,557insA polymorphism in the 11beta-hydroxysteroid dehydrogenase type 1 (HSD11B1) gene and the R453Q polymorphism in the hexose-6-phosphate dehydrogenase (H6PD) gene interacts to cause cortisone reductase deficiency (CRD) when at least three alleles are affected. 17062770 2007
CUI: C1291245
Disease: Cortisone reductase deficiency
Cortisone reductase deficiency 		0.550 GeneticVariation disease BEFREE Common polymorphisms in both HSD11B1 and the hexose-6-phosphate dehydrogenase (H6PD) gene encoding hexose-6-phosphate dehydrogenase have been found together in ACRD patients, who carry three of a possible four minor alleles at the two loci. 16091483 2005
CUI: C1291245
Disease: Cortisone reductase deficiency
Cortisone reductase deficiency 		0.550 GeneticVariation disease BEFREE The R453Q variant in the hexose-6-phosphate dehydrogenase gene (H6PD) and 83557insA mutations in 11beta-hydroxysteroid dehydrogenase (11betaHSD) type 1 gene (HSD11B1) interact, resulting in cortisone reductase deficiency (CRD), a rare disorder characterized by a polycystic ovary syndrome (PCOS)-like phenotype. 15827106 2005
CUI: C1291245
Disease: Cortisone reductase deficiency
Cortisone reductase deficiency 		0.550 GeneticVariation disease BEFREE Inactivating mutations in HSD11B1 cause true cortisone reductase deficiency (CRD). 23132696 2013
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.380 GeneticVariation group BEFREE Functional polymorphisms within 11beta-hydroxysteroid dehydrogenase Type 1 (HSD11B1) gene have shown an association with various factors, including insulin resistance (IR) and hypertension. 28750217 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.380 GeneticVariation group BEFREE Regeneration of cortisol by 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) within liver and adipose tissue may be of pathophysiological importance in obesity and the metabolic syndrome. single nucleotide polymorphisms (SNPs) in HSD11B1, the gene encoding 11β-HSD1, have been associated with type 2 diabetes and hypertension in population-based cohort studies, and with hyperandrogenism in patients with the polycystic ovary syndrome (PCOS). 21622477 2011
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.380 GeneticVariation group BEFREE We assessed the association between polymorphisms in the HSD11B1 gene and left ventricular mass (LVM) in 248 families ascertained through a proband with hypertension. 21402901 2011
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.380 GeneticVariation group BEFREE Polymorphisms in HSD11B1, the gene encoding 11 beta-HSD1, have been associated with metabolic phenotype in humans, including type 2 diabetes and hypertension. 19934376 2010
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.330 GeneticVariation disease BEFREE This study aimed to assess whether HSD11B1 genotypes and haplotypes are associated with depression risk, severity of symptoms and suicidal attempts, considering early-life stress as an environmental factor. 31704233 2020
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.330 GeneticVariation disease BEFREE The aim of our study was to identify polymorphisms in 11β-HSD1 gene (HSD11B1) with consistent associations with increased HPA axis activity and relate those polymorphisms to depression. 22112815 2012
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.330 GeneticVariation disease BEFREE Statistically significant findings at the 0.05 p-level included SNPs in the hydroxysteroid 11-beta dehydrogenase 1 (HSD11B1) gene in relation to self-rated depression scores in postpartum week six among all participants, and serpin family A member 6 (SERPINA6) gene at the same time-point among women with de novo onset of postpartum depression. 30776573 2019
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.330 GeneticVariation disease BEFREE This study aimed to assess whether HSD11B1 genotypes and haplotypes are associated with depression risk, severity of symptoms and suicidal attempts, considering early-life stress as an environmental factor. 31704233 2020
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.330 GeneticVariation disease BEFREE Statistically significant findings at the 0.05 p-level included SNPs in the hydroxysteroid 11-beta dehydrogenase 1 (HSD11B1) gene in relation to self-rated depression scores in postpartum week six among all participants, and serpin family A member 6 (SERPINA6) gene at the same time-point among women with de novo onset of postpartum depression. 30776573 2019
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.330 GeneticVariation disease BEFREE The aim of our study was to identify polymorphisms in 11β-HSD1 gene (HSD11B1) with consistent associations with increased HPA axis activity and relate those polymorphisms to depression. 22112815 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.320 GeneticVariation disease UNIPROT
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.320 GeneticVariation disease BEFREE Two out of five tagging SNPs in HSD11B1 were associated with breast cancer (rs11807619, P = 0.006; rs932335, P = 0.0001). rs11807619 and rs932335 were highly correlated (r2 = 0.74) and, when modeled as a haplotype, only haplotypes containing the rs932335 C allele were associated with breast cancer. 18611262 2008
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.300 GeneticVariation disease BEFREE The variations in HSD11B1 were not associated with susceptibility to type 2 diabetes or metabolic phenotypes in Koreans. 19571556 2009
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.300 GeneticVariation disease BEFREE Regeneration of cortisol by 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) within liver and adipose tissue may be of pathophysiological importance in obesity and the metabolic syndrome. single nucleotide polymorphisms (SNPs) in HSD11B1, the gene encoding 11β-HSD1, have been associated with type 2 diabetes and hypertension in population-based cohort studies, and with hyperandrogenism in patients with the polycystic ovary syndrome (PCOS). 21622477 2011