SLC33A1, solute carrier family 33 member 1, 9197

N. diseases: 170; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.010 GeneticVariation phenotype BEFREE Homozygous Slc33a1<sup>S113R</sup> mutant mice were embryonic lethal, whereas heterozygous Slc33a1 mutant mice (Slc33a1<sup>wt/mut</sup>) exhibited behavioral abnormalities and central neurodegeneration, which is consistent with hereditary spastic paraplegia (HSP) phenotypes. 27935820 2017
CUI: C1854882
Disease: Absent speech
Absent speech
0.100 Biomarker phenotype HPO
CUI: C0751956
Disease: Acute Cerebrovascular Accidents
Acute Cerebrovascular Accidents
0.010 GeneticVariation disease BEFREE The results of this study show no relationship between the A1166C polymorphism in the AT1 gene and acute stroke in the Turkish population. 23480670 2013
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome
0.010 Biomarker disease BEFREE Autoantibodies targeting AT1 receptor from patients with acute coronary syndrome upregulate proinflammatory cytokines expression in endothelial cells involving NF-κB pathway. 25762441 2014
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction
0.010 AlteredExpression disease BEFREE In 82 coronary artery disease (CAD) patients and healthy controls (CTL), expressions of angiotensin I-converting enzyme (ACE), angiotensin AT1 receptor and DC-specific ICAM-3-grabbing nonintegrin (DC-SIGN) on DCs were measured by western-blot: CAD patients had an increased expression of ACE, AT1 receptor and DC-SIGN compared to controls especially in acute myocardial infarction (AMI). 19669395 2009
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.010 AlteredExpression group BEFREE The RT-PCR showed that AT1 receptor expression in well-differentiated adenocarcinoma was higher than that in poorly differentiated adenocarcinoma. 16369744 2005
CUI: C0001430
Disease: Adenoma
Adenoma
0.020 GeneticVariation group BEFREE We conclude that activating mutations of the AT1 receptor are not a major cause of the development of adrenal adenomas, if at all. 9330590 1997
CUI: C0001430
Disease: Adenoma
Adenoma
0.020 GeneticVariation group BEFREE In patients with aldosterone-producing adenomas either responsive or unresponsive to the renin-angiotensin system, no differences were detected using SSCP analysis in the coding region of the AT1 receptor gene in peripheral blood or tumour tissue. 8582102 1996
CUI: C0001624
Disease: Adrenal Gland Neoplasms
Adrenal Gland Neoplasms
0.030 Biomarker group BEFREE The possible involvement of AT(1) receptors in human disease has been investigated by examining the role of AngII receptors in adrenal tumours. 21143284 1996
CUI: C0001624
Disease: Adrenal Gland Neoplasms
Adrenal Gland Neoplasms
0.030 GeneticVariation group BEFREE Therefore, we searched by sequence analysis of the coding region of AT1 receptor gene for activating mutations and genetic polymorphisms in 56 human adrenal tumors (16 aldosterone-producing adenomas, 10 cortisol-producing adenomas, 1 aldosterone-producing carcinoma, and 29 incidentalomas). 9330590 1997
CUI: C0001624
Disease: Adrenal Gland Neoplasms
Adrenal Gland Neoplasms
0.030 AlteredExpression group BEFREE In contrast, in secondary hypertension both platelets and mononuclear leucocytes AT1 receptor mRNA, which were elevated, were reduced after removal of the adrenal tumour or correction of stenosis of the renal artery. 7868875 1994
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.020 Biomarker disease BEFREE We studied the ability of the AT1 receptor antagonist losartan to cure or prevent AD hallmarks in aged (~18months at endpoint, 3months treatment) or adult (~12months at endpoint, 10months treatment) human amyloid precursor protein (APP) transgenic mice. 24807206 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.020 Biomarker disease BEFREE We obtained the evidence that transient brief cerebral ischemia deteriorated cognitive impairment in AD model through AT1 receptor. 27572961 2017
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.010 Biomarker disease BEFREE SLC33A1 is associated with neurodegenerative disorders such as sporadic amyotrophic lateral sclerosis (ALS) and Spastic Paraplegia 42, in the Chinese population. 23506891 2013
Amyotrophic Lateral Sclerosis, Sporadic
0.010 Biomarker disease BEFREE SLC33A1 is associated with neurodegenerative disorders such as sporadic amyotrophic lateral sclerosis (ALS) and Spastic Paraplegia 42, in the Chinese population. 23506891 2013
CUI: C0003467
Disease: Anxiety
Anxiety
0.010 Biomarker disease BEFREE Moreover, AT1 receptor antagonists-induced anti-anxiety effects are associated with up-regulation of AT2 receptors in the brain suggesting that the centrally acting AT2 receptor agonists may serve as potential anxiolytic agents. 23892268 2013
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
0.010 Biomarker group BEFREE Moreover, AT1 receptor antagonists-induced anti-anxiety effects are associated with up-regulation of AT2 receptors in the brain suggesting that the centrally acting AT2 receptor agonists may serve as potential anxiolytic agents. 23892268 2013
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal
0.010 Biomarker disease BEFREE This article is to review our current understanding of angiotensin II (Ang II) and its type 1 receptor (AT1) in AAA pathogenesis as well as the translational potential of AT1 receptor blocker (ARB) treatment for treating clinical AAA disease. 29359665 2018
CUI: C3178782
Disease: Aortic Stiffness
Aortic Stiffness
0.020 Biomarker phenotype BEFREE In this review, it will be shown that (i) converting-enzyme inhibition prevents the accumulation of aortic collagen in hypertensive rats independently of blood pressure changes, (ii) prevention of aortic collagen accumulation in hypertensive rats is obtained through blockade of angiotensin II formation involving AT1 receptors, and (iii) in hypertensive humans, increased aortic stiffness is associated with AGTR1 receptor polymorphism independently of age and blood pressure. 8946073 1996
CUI: C3178782
Disease: Aortic Stiffness
Aortic Stiffness
0.020 GeneticVariation phenotype BEFREE It has been reported that a polymorphism of the AT1 receptor gene (an A/C transversion at position 1166) may be associated with cardiovascular phenotypes, such as arterial blood pressure and aortic stiffness, that underlie a condition of increased cardiovascular risk. 8952599 1996
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.040 Biomarker disease BEFREE Elevated levels of crosslinked AT1 receptor dimers on monocytes could sustain the process of atherogenesis, because inhibition of angiotensin II generation or of intracellular factor XIIIA activity suppressed the appearance of crosslinked AT1 receptors and symptoms of atherosclerosis in ApoE-deficient mice. 15507206 2004
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.040 Biomarker disease BEFREE Agonistic autoantibodies against angiotensin II type 1 (AT1) receptor (AT1-AAs) have been demonstrated to be pro-inflammatory and contribute to the progression of atherosclerosis. 31595199 2019
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.040 Biomarker disease BEFREE To clarify how AT1 receptor antagonists reduce atherosclerosis, the effect of irbesartan on atherosclerotic lesion development was determined in low-fat, chow-fed apolipoprotein (Apo) E-deficient mice. 11486244 2001
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.040 Biomarker disease BEFREE In the present study, we compared the effects of eprosartan, an AT(1) receptor inhibitor, with the diuretic hydrochlorothiazide in a group of newly diagnosed hypertensive patients with multiple risk factors for atherosclerosis. 11897210 2002
CUI: C0003855
Disease: Arteriovenous fistula
Arteriovenous fistula
0.010 GeneticVariation phenotype BEFREE Arteriovenous fistula patency associated with angiotensin-converting enzyme I/D polymorphism and ACE inhibition or AT1 receptor blockade. 19142023 2009