RNU1-1, RNA, U1 small nuclear 1, 26871

N. diseases: 66; N. variants: 0
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 		0.100 GeneticVariation disease BEFREE Our findings suggest that polymorphisms in the 17beta-HSD1 and SHBG genes may modify the association between isoflavone intake and breast cancer risk. 20432167 2010
CUI: C0028754
Disease: Obesity
Obesity 		0.100 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: C0028754
Disease: Obesity
Obesity 		0.100 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 		0.100 GeneticVariation disease BEFREE The main results of our study are the exclusion of a common association of 11beta-HSD1 mutations to obesity and the identification of two novel allelic variants for the gene 11beta-HSD1 in the Italian population, not previously described in any database. 11428721 2001
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.100 GeneticVariation disease BEFREE In conclusion, molecular screening of the 11beta-HSD1 gene did not reveal any sequence variations that can significantly contribute to the etiology of the metabolic syndrome among French-Canadians. 15536220 2004
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.100 GeneticVariation disease BEFREE Our findings indicate that polymorphisms and haplotypes in the 11beta-HSD1 gene are not significantly associated with metabolic syndrome in the Japanese population. 19535162 2009
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.100 GeneticVariation disease BEFREE In this study, we investigated the association of two 11beta-HSD1 gene (HSD11B1) polymorphisms with the metabolic syndrome (MetS) and its characteristics in the Bosnian population. 22384521 2012
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.100 GeneticVariation disease BEFREE Polymorphisms in the 11beta-HSD1 gene are also associated with components of the metabolic syndrome. 17912154 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.090 GeneticVariation disease BEFREE Our findings suggest that polymorphisms in the 17beta-HSD1 and SHBG genes may modify the association between isoflavone intake and breast cancer risk. 20432167 2010
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.040 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: C0206081
Disease: Hyperandrogenism
Hyperandrogenism 		0.030 GeneticVariation disease BEFREE Mutations in the corresponding HSD11B1 gene, or in the H6PD gene encoding hexose-6-phosphate dehydrogenase (which supplies the NADPH required for the oxoreductase activity of 11-HSD1), cause apparent cortisone reductase deficiency, a rare syndrome of adrenocortical hyperactivity and hyperandrogenism. 29843121 2018
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.020 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: C1970209
Disease: Alzheimer Disease 12
Alzheimer Disease 12 		0.020 GeneticVariation disease BEFREE Adenovirus type 12 (Ad12) infection of human cells induces four chromosomal fragile sites corresponding to the U1 small nuclear RNA (snRNA) genes (the RNU1 locus), the U2 snRNA genes (RNU2), the U1 snRNA pseudogenes (PSU1), and the 5S rRNA genes (RN5S). 9557707 1998
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.010 GeneticVariation disease BEFREE We hypothesized that soy food consumption may interact with polymorphisms in the 17beta-HSD1 gene in the development of endometrial cancer and evaluated this hypothesis in the Shanghai Endometrial Cancer Study. 17301695 2007
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.010 GeneticVariation disease BEFREE We propose that Ad12 infection, actinomycin D and araC all induce a similar or identical global damage arrest signal (perhaps a modification or altered conformation of p53) that preferentially interferes with metaphase condensation of the RNU1 and RNU2 loci. 9499413 1998
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		0.010 GeneticVariation disease BEFREE All the digestive tract pan-adenocarcinomas showed differential expression of three snRNAs: the up-regulated RNU1-106 P and RNU6-850 P and the down-regulated RNU6-529 P. Interestingly, RNU6-101 P appeared to be a risk factor for esophageal adenocarcinoma (ESAD) and RNVU1-4 was potentially a protective factor for stomach adenocarcinoma (STAD) survival. 30455130 2019
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 GeneticVariation disease BEFREE We hypothesized that soy food consumption may interact with polymorphisms in the 17beta-HSD1 gene in the development of endometrial cancer and evaluated this hypothesis in the Shanghai Endometrial Cancer Study. 17301695 2007
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.010 GeneticVariation disease BEFREE Recent association studies have failed to corroborate findings that polymorphisms in the genes encoding H6PDH (R453Q) and 11beta-HSD1 (Intron 3 inserted adenine) interact to cause CRD. 18628520 2008
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 Biomarker disease BEFREE The high activity of estrogen activation provides the basis of 17β-HSD1's implication in estrogen-dependent diseases, such as breast cancer, endometriosis and non-small cell lung carcinomas. 27102893 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 Biomarker disease BEFREE This indicates that 17β-HSD1 may be involved in oncogenesis by favoring anti-apoptosis pathway in breast cancer cells and correborates with its previously shown role in increasing breast cancer cell proliferation. 27544780 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 Biomarker disease BEFREE These results strongly support the rationale for inhibiting 17beta-HSD1 in breast cancer therapy to eliminate estrogen activation via the sulfatase pathway while avoiding the deprivation of DHT. 20172961 2010
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 Biomarker disease BEFREE Increased estrogen sulfatase (STS) and 17beta-hydroxysteroid dehydrogenase type 1(17beta-HSD1) following neoadjuvant aromatase inhibitor therapy in breast cancer patients. 20151319 2010
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 Biomarker disease BEFREE Pharmacokinetic profile of PBRM in rodents, a first selective covalent inhibitor of 17β-HSD1 for breast cancer and endometriosis treatments. 29248731 2018
CUI: C0028754
Disease: Obesity
Obesity 		0.100 Biomarker disease BEFREE Blocking adipogenesis with a novel and specific 11beta-HSD1 inhibitor may represent a novel approach to treat obesity in patients with MS. 18434359 2008
CUI: C0028754
Disease: Obesity
Obesity 		0.100 Biomarker disease BEFREE 'Cushing's disease of the kidney' arises because of a failure of 11beta-HSD2 to inactivate cortisol to cortisone resulting in cortisol-induced mineralocorticoid excess.Conversely, 11beta-HSD1 has been linked to human obesity and insulin resistance, but also to other diseases in which glucocorticoids have historically been implicated (osteoporosis, glaucoma). 16079253 2005