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: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.010 Biomarker phenotype BEFREE These results indicate that both β<sub>1</sub>-adrenoceptors and AT1 receptors may not be involved in the pathogenesis of catecholamine-induced arrhythmias and support the view that other mechanisms, such as the oxidation products of catecholamines, may play a crucial role in the occurrence of lethal arrhythmias. 30557041 2019
CUI: C0020625
Disease: Hyponatremia
Hyponatremia 		0.010 AlteredExpression phenotype BEFREE Immunofluorescence quantification showed a significant reduction in 5-HT content but no change in AT1 receptor expression or AT1/5-HT colocalisation in the DRN after sodium depletion. 30803087 2019
CUI: C0023269
Disease: leiomyosarcoma
leiomyosarcoma 		0.010 Biomarker disease BEFREE The regulation of the differentiation and apoptosis via the AT2 receptor favours an important functional role of this receptor in quiescent, slow-cycling SK-UT-1 cells and provides the rationale for the use of AT1 receptor antagonists for the treatment of human leiomyosarcomas. 28253719 2019
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.010 Biomarker disease BEFREE AT1 receptor antagonism promotes bone loss attenuation in experimental periodontitis, block inflammatory mediators, upregulate antioxidant enzymes and bone formation markers. 31473996 2019
CUI: C0031099
Disease: Periodontitis
Periodontitis 		0.010 Biomarker disease BEFREE AT1 receptor antagonism promotes bone loss attenuation in experimental periodontitis, block inflammatory mediators, upregulate antioxidant enzymes and bone formation markers. 31473996 2019
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.010 Biomarker group BEFREE In regard to clinical studies, treatment with Angiotensin Converting Enzyme (ACE) inhibitors and AT1 receptor antagonists exerts preventive and therapeutic effects on stroke. 31849284 2019
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.010 AlteredExpression phenotype BEFREE AT1 receptors in the hypothalamus are endogenously activated to sustain NMDA receptor hyperactivity and elevated sympathetic outflow via PKC in hypertension. 31241170 2019
CUI: C1392786
Disease: Cognitive changes
Cognitive changes 		0.010 Biomarker phenotype BEFREE Cognitive changes in AT-I were limited to mild visual-spatial disorganization. 30338439 2019
CUI: C1397307
Disease: Cardiac fibrosis
Cardiac fibrosis 		0.010 Biomarker disease BEFREE These results suggest that the AT1 receptor is involved in the development of cardiac fibrosis by stimulating TNFα/NFκB/IκB-triggered CD44 signaling pathways. 29470359 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 Biomarker group BEFREE Mutations and duplication events in AT-1/SLC33A1 are highly pleiotropic and have been linked to diseases such as spastic paraplegia, developmental delay, autism spectrum disorder, intellectual disability, propensity to seizures, and dysmorphism. 30051577 2018
CUI: C0009319
Disease: Colitis
Colitis 		0.010 AlteredExpression disease BEFREE Restraint stress resulted in colon inflammation with higher histological damage scores, increased expression of Nox4, TLR-4 and IL1-β, accumulation of reactive oxygen species (ROS), and activation of the ACE-angiotensin II-AT1 receptor axis. 29155324 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 Biomarker disease BEFREE In the present work, we explored the changes in the expression of angiotensin II receptor, type 1 (AT<sub>1</sub> receptor) in limbic structures, as well as the effect of the AT1 receptor antagonist losartan in a model of comorbid hypertension and epilepsy. 29223539 2018
CUI: C0036572
Disease: Seizures
Seizures 		0.010 Biomarker phenotype BEFREE Mutations and duplication events in AT-1/SLC33A1 are highly pleiotropic and have been linked to diseases such as spastic paraplegia, developmental delay, autism spectrum disorder, intellectual disability, propensity to seizures, and dysmorphism. 30051577 2018
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: C0235527
Disease: Heart Failure, Right-Sided
Heart Failure, Right-Sided 		0.010 AlteredExpression disease BEFREE Our findings indicate that the myocardium of rats with monocrotaline-induced right ventricular failure is deficient with activation of local RAS and therefore expresses blunted SFR, very similar to the depression of SFR observed in normal myocardium under inhibition of AT1 receptors. 29593122 2018
CUI: C0333463
Disease: Senile Plaques
Senile Plaques 		0.010 Biomarker disease BEFREE Angiotensin II (AngII) via AT1 receptor is reported to increase brain Aβ level via different mechanisms including increasing amyloid precursor protein (APP) mRNA, β-secretase activity, and presenilin expression. 29760662 2018
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		0.010 Biomarker disease BEFREE Together, these findings suggest that strategies aimed at blocking the AT1 receptor may mitigate HHcy-associated aneurysmal vascular injuries. 29296021 2018
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		0.010 Biomarker disease BEFREE Mutations and duplication events in AT-1/SLC33A1 are highly pleiotropic and have been linked to diseases such as spastic paraplegia, developmental delay, autism spectrum disorder, intellectual disability, propensity to seizures, and dysmorphism. 30051577 2018
CUI: C2936349
Disease: Plaque, Amyloid
Plaque, Amyloid 		0.010 Biomarker disease BEFREE Angiotensin II (AngII) via AT1 receptor is reported to increase brain Aβ level via different mechanisms including increasing amyloid precursor protein (APP) mRNA, β-secretase activity, and presenilin expression. 29760662 2018
CUI: C2939447
Disease: Right ventricular failure
Right ventricular failure 		0.010 AlteredExpression disease BEFREE Our findings indicate that the myocardium of rats with monocrotaline-induced right ventricular failure is deficient with activation of local RAS and therefore expresses blunted SFR, very similar to the depression of SFR observed in normal myocardium under inhibition of AT1 receptors. 29593122 2018
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		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: C4082974
Disease: Dupuytren's Disease
Dupuytren's Disease 		0.010 Biomarker disease BEFREE This suggests that the expression of AT2 receptors is more prominent than AT1 receptors in Dupuytren's disease. 28486091 2018
CUI: C0006111
Disease: Brain Diseases
Brain Diseases 		0.010 AlteredExpression group BEFREE This review will discuss some of the reasons why revisiting brain RAS is a pressing necessity, will present evidence for a participation of AT1 receptor over activity in the development of major brain disorders, and will present definite evidence of ARBs neuroprotective effects. 28711402 2017
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.010 Biomarker disease BEFREE Regarding AT1 receptor blockage, the significant association between higher SMMSE scores and increased angiotensin peptides may support a finding that ARBs prevent dementia and improve cognitive function. 28507470 2017
CUI: C0028754
Disease: Obesity
Obesity 		0.010 Biomarker disease BEFREE AT1-receptor blockade attenuates outward aortic remodeling associated with diet-induced obesity in mice. 28646121 2017