UMOD, uromodulin, 7369

N. diseases: 164; N. variants: 35
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
Osteoporosis, Postmenopausal
0.010 Biomarker disease BEFREE Collectively, our study demonstrated that l-THP suppressed osteoclastogenesis by blocking RANK-TRAF6 interactions and inhibiting NF-κB and MAPK pathways. l-THP is a promising agent for treating osteoclastogenesis-related diseases such as post-menopausal osteoporosis. 31725199 2020
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
0.010 AlteredExpression disease BEFREE The endogenous neurosteroid (3α,5α)3-hydroxypregnan-20-one (3α,5α-THP, allopregnanolone) has protective activity in animal models of alcoholism, depression, traumatic brain injury, schizophrenia, multiple sclerosis, and Alzheimer's disease that is poorly understood. 30718548 2019
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
0.010 AlteredExpression group BEFREE A similar mutational pattern was observed in the mutational signature of esophageal cancer patients that demonstrated weak correlation with THP-dG levels. 31286759 2019
CUI: C0015967
Disease: Fever
Fever
0.010 Biomarker phenotype BEFREE After admission patient was started on Risperidone along with THP when he had fever, tremors, altered sensorium and rigidity at 3 mg dose. 31071486 2019
CUI: C0017658
Disease: Glomerulonephritis
Glomerulonephritis
0.010 Biomarker disease BEFREE Serum uromodulin is associated with the severity of clinicopathological findings in ANCA-associated glomerulonephritis. 31725735 2019
CUI: C0020503
Disease: Hyperparathyroidism, Secondary
Hyperparathyroidism, Secondary
0.010 GeneticVariation disease BEFREE Furthermore, in the long course of chronic kidney diseases (CKD), SHP sometimes transforms into a hypercalcemic condition resembling the autonomous form of hyperparathyroidism (tertiary hyperparathyroidism; THP). 30641516 2019
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.010 AlteredExpression disease BEFREE Lower uromodulin levels on admission are associated with increased odds of subsequent AKI in hospitalized patients with cirrhosis. 31411505 2019
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease
0.010 Biomarker disease BEFREE Investigation of the anti-inflammatory effect of 16c was performed in MSU treated THP-1 cells by flow cytometry, Western Blot and immunofluorescence labeling technology, which exhibited that 16c might be a promising candidate for further research. 31376563 2019
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
0.010 Biomarker phenotype BEFREE After admission patient was started on Risperidone along with THP when he had fever, tremors, altered sensorium and rigidity at 3 mg dose. 31071486 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 AlteredExpression group BEFREE L-THP suppressed the expression of miR-93 and increased the levels of PTEN, a crucial tumor suppressor in OC. 31128026 2019
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
0.010 Biomarker phenotype BEFREE To investigate the effects and mechanisms of l-THP on sleep disturbance in a neuropathic pain-like condition. 31172225 2019
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.010 GeneticVariation group BEFREE The associations of sUMOD with all-cause mortality, incident heart failure (HF) and incident cardiovascular disease (CVD; myocardial infarction, stroke and mortality due to coronary disease or stroke) were evaluated using multivariable Cox regression, adjusting for study participants' demographics, estimated glomerular filtration rate (eGFR), albuminuria and CVD risk factors. 30903163 2019
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.010 Biomarker disease BEFREE THP-1 cells which express two inducible reporter constructs for interferons (IFNs) as well as for NF-κB, were stimulated via endosomal delivery of Mtb DNA as a nanocomplex with PEI. 31085128 2019
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
0.010 AlteredExpression disease BEFREE A similar mutational pattern was observed in the mutational signature of esophageal cancer patients that demonstrated weak correlation with THP-dG levels. 31286759 2019
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb
0.010 AlteredExpression disease BEFREE Microarray results showed that TPT significantly increased expression of 958 genes and decreased expression of 1400 genes in THP-1 cells upon LPS stimulation. 30691855 2019
CUI: C0267971
Disease: Storage disease
Storage disease
0.010 GeneticVariation group BEFREE Mutations in the uromodulin gene (<i>UMOD</i>) resulting in malfunctioning of UMOD are known to be the cause of ADTKD-UMOD, which is assumed to be an endoplasmatic reticulum (ER) storage disease. 30976393 2019
CUI: C0271858
Disease: Tertiary hyperparathyroidism
Tertiary hyperparathyroidism
0.010 GeneticVariation disease BEFREE Furthermore, in the long course of chronic kidney diseases (CKD), SHP sometimes transforms into a hypercalcemic condition resembling the autonomous form of hyperparathyroidism (tertiary hyperparathyroidism; THP). 30641516 2019
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.010 Biomarker disease BEFREE The association of serum uromodulin with metabolic syndrome and its components were assessed using multivariable logistic regression models. 31505464 2019
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
0.010 AlteredExpression disease BEFREE A similar mutational pattern was observed in the mutational signature of esophageal cancer patients that demonstrated weak correlation with THP-dG levels. 31286759 2019
CUI: C0700201
Disease: Dyssomnias
Dyssomnias
0.010 Biomarker disease BEFREE To investigate the effects and mechanisms of l-THP on sleep disturbance in a neuropathic pain-like condition. 31172225 2019
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders
0.010 Biomarker group BEFREE To investigate the effects and mechanisms of l-THP on sleep disturbance in a neuropathic pain-like condition. 31172225 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.010 AlteredExpression disease BEFREE L-THP suppressed the expression of miR-93 and increased the levels of PTEN, a crucial tumor suppressor in OC. 31128026 2019
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome
0.010 Biomarker disease BEFREE Using a sample of 2377 persons with CKD at the baseline Systolic Blood Pressure Intervention Trial (SPRINT) visit, we evaluated the association of three urine tubular function markers, alpha-1 microglobulin (α1m), beta-2 microglobulin (β2m), and uromodulin, with a composite CVD endpoint (myocardial infarction, acute coronary syndrome, stroke, acute decompensated heart failure, or death from cardiovascular causes) and mortality using Cox proportional hazards regression, adjusted for baseline estimated glomerular filtration rate (eGFR), albuminuria, and CVD risk factors. 31257404 2019
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.010 AlteredExpression disease BEFREE L-THP suppressed the expression of miR-93 and increased the levels of PTEN, a crucial tumor suppressor in OC. 31128026 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 Biomarker phenotype BEFREE Using the Cytochalasin D to differentiate the invasion of S. Choleraaesuis and phagocytosis of THP-1 cells determined that pSCV were responsible for invasion and phagocytosis at 0 h and inhibited intracellular replication in THP-1 cells, and pSTV were responsible for invasion and increased intracellular survival for S. Choleraesuis in THP-1 cells. 30583022 2019