SI, sucrase-isomaltase, 6476

N. diseases: 117; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Abnormality of metabolism/homeostasis
0.100 Biomarker phenotype HPO
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
0.010 Biomarker phenotype BEFREE The currently available α-glucosidase inhibitors, for instance, acarbose have some side effects such as hypoglycemia at higher doses, liver problems, meteorism, diarrhea, and lactic acidosis. 31553294 2020
CUI: C0545044
Disease: Acrokeratoelastoidosis of Costa
Acrokeratoelastoidosis of Costa
0.010 AlteredExpression disease BEFREE Finally, we showed that AKE significantly inhibits α-glucosidase activity in vitro. 28622482 2017
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.040 AlteredExpression group BEFREE Thus, the specificity and ubiquity of sucrase-isomaltase expression in adenocarcinomas of the colon can be exploited to improve the clinical management of this disease. 1707385 1991
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.040 Biomarker group BEFREE Immunohistochemical localization showed that SI was directed to the apical membrane in Barrett's epithelium in contrast to a more diffuse cytoplasmic pattern in esophageal adenocarcinomas. 8359653 1993
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.040 Biomarker group BEFREE Of 14 cardia adenocarcinomas that were SI negative, 100% (14/14) had no associated Barrett's mucosa. 8893584 1996
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.040 AlteredExpression group BEFREE This phenolic-rich extract inhibited the lipid oxidation of Wistar rat brain (IC<sub>50</sub> = 863.0 mg GAE/L), inhibited α-glucosidase activity (IC<sub>50</sub> = 435.4 µg/mL), protected human erythrocytes against mechanical hemolysis at different osmolarity conditions, and showed cytotoxic/antiproliferative effects against human ileocecal adenocarcinoma cells (HCT8; IC<sub>50</sub> = 552.6 µg/mL) but no cytotoxicity toward noncancerous human lung fibroblast (IMR90). 31721214 2019
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon
0.010 AlteredExpression disease BEFREE This study shows that the expression of enzymatically active sucrase-isomaltase is a ubiquitous property of primary and metastatic colon adenocarcinoma. 1707385 1991
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.040 Biomarker disease BEFREE In this work, phenol-rich extracts from 'Cornicabra' and 'Picual' virgin-olive oils (EVOOs) were examined, for the first time, to establish their capacity to inhibit key enzymes involved in Alzheimer's disease (AD) (acetylcholinesterase (AChE), butyrylcholinesterase (BuChE) and 5-lipoxygenase (LOX)), major depressive disorder (MDD) and Parkinson's disease (PD) (monoamine oxidases: hMAO-A and hMAO-B respectively), and diabetes mellitus (DM) (α-glucosidase and α-amylase). 29579961 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.040 Biomarker disease BEFREE This study sets out to investigate into antioxidant and inhibitory activities of O. argyrea extracts (ethyl acetate, methanol, and water) against key enzymes linked to diabetes (α-amylase, α-glucosidase), Alzheimer's disease (acetylcholinesterase, butyrylcholinesterase), and skin hyperpigmentation (tyrosinase). 30081342 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.040 Biomarker disease BEFREE EAE was the most effective enzyme inhibitor, exhibiting the highest inhibition against some enzymes linked to Alzheimer's disease (cholinesterases), diabetes mellitus (α-glucosidase and α-amylase) and hyperpigmentation problems (tyrosinase). 30466026 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.040 GeneticVariation disease BEFREE The aim of the study was to evaluate the inhibitory effects against Alzheimer's disease-related enzymes Acetylcholinesterase (AChE) and Butyrylcholinesterase (BuChE), diabetes mellitus related enzymes α-glucosidase and α-amylase. 30213283 2018
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.010 AlteredExpression disease BEFREE Disease-related changes in glycogen, glucose, and α-glucosidase activity are also found in spinal cord tissue samples of autopsied patients with ALS. 23754387 2013
CUI: C0741281
Disease: atrial fibrillation new onset
atrial fibrillation new onset
0.010 Biomarker disease BEFREE Sulfonylureas, glinides, α-glucosidase inhibitors, and dipeptidyl peptidase-4 inhibitors were not associated with developing the risk of NAF. 30161122 2018
CUI: C1258085
Disease: Barrett Epithelium
Barrett Epithelium
0.010 Biomarker disease BEFREE Immunohistochemical localization showed that SI was directed to the apical membrane in Barrett's epithelium in contrast to a more diffuse cytoplasmic pattern in esophageal adenocarcinomas. 8359653 1993
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus
0.020 AlteredExpression disease BEFREE Reverse transcription polymerase chain reaction was used to determine the presence of SI mRNA in Barrett's esophagus and esophageal adenocarcinomas. 8359653 1993
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus
0.020 Biomarker disease BEFREE This suggests that SI-positive tumors may represent BA without the standard definition of Barrett's esophagus being met. 8893584 1996
CUI: C1332460
Disease: Barrett's Adenocarcinoma
Barrett's Adenocarcinoma
0.010 Biomarker disease BEFREE Detection of Barrett's adenocarcinoma of the gastric cardia with sucrase isomaltase and p53. 8893584 1996
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy
0.010 AlteredExpression disease BEFREE We describe a case of Becker muscular dystrophy (BMD) with a remarkable reduction in activity of the acid α-glucosidase (GAA) enzyme, caused by a combination of pathogenic mutation and polymorphism variants resulting in pseudodeficiency in GAA. 29778277 2018
CUI: C4732730
Disease: Blood spots
Blood spots
0.080 AlteredExpression disease BEFREE The screening of GSD2 through the measurement of acid alpha-glucosidase activity in dried blood spots was applied to a selected sample of 5 Mexican patients with proximal myopathies of unknown etiology. 20350966 2010
CUI: C4732730
Disease: Blood spots
Blood spots
0.080 AlteredExpression disease BEFREE We quantified levels of acid alpha-glucosidase (GAA) from dried blood spots analyzed fluorometrically. 25998610 2015
CUI: C4732730
Disease: Blood spots
Blood spots
0.080 AlteredExpression disease BEFREE To investigate the feasibility of newborn screening for glycogen storage disease type II (GSDII; Pompe disease or acid maltase deficiency) in the Japanese population, we assayed the acid alpha-glucosidase activity in dried blood spots from 715 Japanese newborns and 18 previously diagnosed patients using a fluorometric procedure. 19362502 2009
CUI: C4732730
Disease: Blood spots
Blood spots
0.080 Biomarker disease BEFREE Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots. 21320792 2011
CUI: C4732730
Disease: Blood spots
Blood spots
0.080 AlteredExpression disease BEFREE Newborn screening (NBS) for Pompe disease is done through analysis of acid α-glucosidase (GAA) activity in dried blood spots. 29162674 2017
CUI: C4732730
Disease: Blood spots
Blood spots
0.080 AlteredExpression disease BEFREE Acid α-glucosidase (GAA) activity in dried blood spots was measured and clinical data collected in 108 patients. 25047669 2014