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: C3665382
Disease: 2,8-Dihydroxyadenine Urolithiasis
2,8-Dihydroxyadenine Urolithiasis
0.010 Biomarker disease BEFREE In our center, more than 30% (278/911) of kidney transplant (KTx) recipients were diagnosed with a causal nephropathy: Prevalence of rare genetic disorders in this group was 4.32% (12/278), including 2,8-dihydroxyadeninuria (2,8-DHA) disease (n = 2), HNF-1B-associated nephropathy (n = 2), UMOD-related nephropathy (n = 5), Fabry disease (n = 1), INF2 focal segmental glomerulosclerosis (n = 1), and Senior-Løken syndrome (n = 1). 24961278 2014
CUI: C4021821
Disease: Abnormality of the urinary system
Abnormality of the urinary system
0.010 GeneticVariation disease BEFREE Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT). 18846391 2009
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: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.010 Biomarker disease BEFREE We hypothesized that L-THP, being an isoquinoline alkaloid, could be a potential molecule against acute lymphoblastic leukemia (ALL), in this study, we evaluate L-THP against p53 deficient leukemia EU-4 cell lines in vitro. 28721806 2017
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis
0.010 Biomarker disease BEFREE Serum Uromodulin Levels in Prediction of Acute Kidney Injury in the Early Phase of Acute Pancreatitis. 28613246 2017
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
0.010 Biomarker disease BEFREE We hypothesized that L-THP, being an isoquinoline alkaloid, could be a potential molecule against acute lymphoblastic leukemia (ALL), in this study, we evaluate L-THP against p53 deficient leukemia EU-4 cell lines in vitro. 28721806 2017
CUI: C0001956
Disease: Alcohol Use Disorder
Alcohol Use Disorder
0.020 AlteredExpression disease BEFREE Therefore, we used immunohistochemistry (IHC) to examine 3α,5α-THP levels in the ventral tegmental area (VTA), substantia nigra pars medialis (SNM), and amygdala of human postmortem brains of patients diagnosed with AUD compared with social drinkers. 28068457 2017
CUI: C0001956
Disease: Alcohol Use Disorder
Alcohol Use Disorder
0.020 Biomarker disease BEFREE For many years, research from around the world has suggested that the neuroactive steroid (3α,5α)-3-hydroxypregnan-20-one (allopregnanolone or 3α,5α-THP) may have therapeutic potential for treatment of various symptoms of alcohol use disorders (AUDs). 31782169 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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.020 Biomarker disease BEFREE Influence of Acetylcholinesterase Inhibitors Used in Alzheimer's Disease Treatment on the Activity of Antioxidant Enzymes and the Concentration of Glutathione in <i>THP-1</i> Macrophages under Fluoride-Induced Oxidative Stress. 30577562 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.020 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: C0003123
Disease: Anorexia
Anorexia
0.010 Biomarker disease BEFREE Patients with malignant lymphoma who received CHOP chemotherapy or THP (THP-ADR)-COP therapy were investigated for CINV and anorexia for 5 days after the start of chemotherapy. 29061362 2018
CUI: C0003467
Disease: Anxiety
Anxiety
0.020 Biomarker disease BEFREE Here we show that THP (allopregnanolone), a steroid that is released as a result of stress, increases anxiety in pubertal female mice, in contrast to its anxiety-reducing effect in adults. 17351635 2007
CUI: C0003467
Disease: Anxiety
Anxiety
0.020 GeneticVariation disease BEFREE The hypothesis was that if some of the estrous cycle differences in exploratory (open field) and anxiety (elevated plus maze) are due to P's 5α-reduction to 5α-pregnan-3α-ol-20-one (3α,5α-THP), then wildtype mice will have estrous cycle differences in the expression of these behaviors, but 5αRKO mice will not. 21946309 2012
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
0.020 Biomarker group BEFREE Here we show that THP (allopregnanolone), a steroid that is released as a result of stress, increases anxiety in pubertal female mice, in contrast to its anxiety-reducing effect in adults. 17351635 2007
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
0.020 GeneticVariation group BEFREE The hypothesis was that if some of the estrous cycle differences in exploratory (open field) and anxiety (elevated plus maze) are due to P's 5α-reduction to 5α-pregnan-3α-ol-20-one (3α,5α-THP), then wildtype mice will have estrous cycle differences in the expression of these behaviors, but 5αRKO mice will not. 21946309 2012
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm
0.010 Biomarker disease BEFREE In the present research, we evaluated the effects of L-THP on the progression of aortic aneurysms (AAs) in experimental rats induced with perfusion of elastase. 29388563 2018
CUI: C3178782
Disease: Aortic Stiffness
Aortic Stiffness
0.010 Biomarker phenotype BEFREE Serum uromodulin inversely associates with aortic stiffness in youth with type 1 diabetes: A brief report from EMERALD study. 31003921 2019
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.010 Biomarker disease BEFREE As a replication set, we tested the genotype association with uromodulin concentration in the Atherosclerosis Risk in Communities (ARIC) Study (n = 42). 19959715 2010
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.010 Biomarker disease BEFREE As a replication set, we tested the genotype association with uromodulin concentration in the Atherosclerosis Risk in Communities (ARIC) Study (n = 42). 19959715 2010
CUI: C0241910
Disease: Autoimmune Chronic Hepatitis
Autoimmune Chronic Hepatitis
0.010 Biomarker disease BEFREE The present study indicated that L-THP attenuated acute liver injury in ConA-induced autoimmune hepatitis by inhibiting apoptosis and autophagy via the TRAF6/JNK pathway. 30622431 2018
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis
0.010 Biomarker disease BEFREE The present study indicated that L-THP attenuated acute liver injury in ConA-induced autoimmune hepatitis by inhibiting apoptosis and autophagy via the TRAF6/JNK pathway. 30622431 2018
Autosomal dominant tubulointerstitial kidney disease
0.100 Biomarker disease BEFREE Autosomal dominant medullary cystic kidney disease type 2 (MCKD2) is a tubulo-in terstitial nephropathy that causes renal salt wasting, hyperuricemia, gout, and end-stage renal failure in the fifth decade of life. 17245395 2007
Autosomal dominant tubulointerstitial kidney disease
0.100 GeneticVariation disease BEFREE Here, we report a 3-year-old Chinese boy in an ADTKD family caused by a novel UMOD gene mutation. 31068150 2019
Autosomal dominant tubulointerstitial kidney disease
0.100 Biomarker disease BEFREE Uromodulin kidney disease (UKD) is a subtype of autosomal dominant tubulointerstitial kidney disease (ADTKD), and is a rare cause of renal failure and gout in young people. 31157132 2019