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
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.790 GeneticVariation disease BEFREE Immunoelectron microscopy of duodenal biopsies showed an isolated SI deficiency in a mosaic pattern [e.g., 42% (14%) crypt enterocytes and 64% (59%) villus enterocytes with decreased amounts of SI on microvilli], whereas lactase and aminopeptidase n (ApN) were present at the apical membrane of all cells in a normal range. 18043509 2008
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.790 GeneticVariation disease BEFREE Here we analyzed the sucrase-isomaltase (SI) gene from 11 patients of Hungarian origin with congenital sucrase-isomaltase deficiency. 16329100 2006
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.790 Biomarker disease BEFREE Congenital sucrase-isomaltase deficiency (CSID) is characterized by absence or deficiency of the mucosal sucrase-isomaltase enzyme. 19330928 2009
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.790 Biomarker disease BEFREE Congenital sucrase-isomaltase deficiency. Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment. 8609217 1996
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.790 GeneticVariation disease BEFREE The novel compound heterozygote V577G/C1531W SI mutations lead to lack of SI expression in the duodenal brush border, confirming the diagnosis of CSID. 27749612 2017
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.790 GeneticVariation disease BEFREE This novel concept and the existence of mild consequences in a number of SI mutants strongly propose that CSID is an underdiagnosed and a more common intestinal disease than currently known. 28062276 2017
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.790 Biomarker disease BEFREE We describe here a novel CSID phenotype, in which pro-SI undergoes an unusual intracellular cleavage that eliminates its transmembrane domain. 10903344 2000
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.790 GeneticVariation disease BEFREE The cDNA encoding SI from a patient with CSID reveals a mutation in the isomaltase subunit of SI that results in the substitution of a cysteine by an arginine at amino acid residue 635 (C635R). 16543230 2006
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.790 Biomarker disease BEFREE The impaired sorting profile to the apical membrane of human intestinal sucrase-isomaltase is the underlying cause in the pathogenesis of a novel phenotype of intestinal congenital sucrase-isomaltase deficiency. 11340066 2001
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		0.130 GeneticVariation group BEFREE Congenital sucrase-isomaltase deficiency (CSID) is an autosomal recessive disorder of carbohydrate maldigestion and malabsorption caused by mutations in the sucrase-isomaltase (SI) gene. 31557950 2019
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		0.130 GeneticVariation group BEFREE Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption. 16329100 2006
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		0.130 Biomarker group BEFREE The current study unraveled CSID as a multifaceted malabsorption disorder that comprises three major classes of functional and trafficking mutants of SI and established a gradient of mild to severe functional deficits in the enzymatic functions of the enzyme. 28062276 2017
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.110 AlteredExpression phenotype BEFREE In children, lactase and sucrase-isomaltase are essential intestinal glycohydrolases, and insufficiency of either enzyme causes diarrhea and malnutrition. 9669724 1998
CUI: C0011847
Disease: Diabetes
Diabetes 		0.100 Biomarker disease BEFREE The findings of this work supported that N. oleracea is a rich source of phenolics that can be potential antioxidants and α-glucosidase inhibitors for the management of diabetes. 30616569 2019
CUI: C0011847
Disease: Diabetes
Diabetes 		0.100 Biomarker disease BEFREE α-Glucosidase enzymes contribute to the digestion of starch into glucose and are thus attractive therapeutic targets for diabetes. 29548257 2018
CUI: C0011847
Disease: Diabetes
Diabetes 		0.100 Biomarker disease BEFREE Enzyme inhibitory potential was assessed against key enzymes linked to global health problems, namely neurodegenerative diseases (acetylcholinesterase), pigmentation (tyrosinase), and diabetes (α-amylase and α-glucosidase). 29169111 2018
CUI: C0011847
Disease: Diabetes
Diabetes 		0.100 Biomarker disease BEFREE α-Glucosidase and its inhibitors play a key role in diagnosis and treatment of diabetes. 31670357 2019
CUI: C0011847
Disease: Diabetes
Diabetes 		0.100 Biomarker disease BEFREE α-Glucosidase plays an important role in carbohydrate metabolism and is therefore an attractive therapeutic target for the treatment of diabetes, obesity and other related complications. 30282319 2018
CUI: C0011847
Disease: Diabetes
Diabetes 		0.100 AlteredExpression disease BEFREE Increased α-glucosidase, PEPCK, GLUT-2 and SGLTs levels with the induction of diabetes considerably lowered with TPSE treatment. 30399410 2019
CUI: C0011847
Disease: Diabetes
Diabetes 		0.100 Biomarker disease BEFREE Gray, and <i>Salvia officinalis</i> L. decoctions were investigated for their health-benefit properties, in particular with respect to antioxidant activity and inhibitory ability towards key enzymes with impact in diabetes and obesity (α-glucosidase, α-amylase and pancreatic lipase). 30513773 2018
CUI: C0011847
Disease: Diabetes
Diabetes 		0.100 Biomarker disease BEFREE Protein tyrosine phosphatase 1B (PTP1B) and α-glucosidase are important targets to treat obesity and diabetes, due to their deep correlation with insulin and leptin signalling, and glucose regulation. 28933230 2017
CUI: C0011847
Disease: Diabetes
Diabetes 		0.100 AlteredExpression disease BEFREE The inhibition of α-glucosidase, a key carbohydrate hydrolyzing enzyme, could serve as one of the effective methodology in both preventing and treating diabetes through controlling the postprandial glucose levels and suppressing postprandial hyperglycemia. 29421697 2018
CUI: C0011847
Disease: Diabetes
Diabetes 		0.100 GeneticVariation disease BEFREE Accordingly, nutritional composition, the content of phytochemical antioxidants, and the inhibitory ability of key enzymes with impacts on obesity and diabetes (α-glucosidase and pancreatic lipase) or on arterial pressure (angiotensin-I converting enzyme), were evaluated. 30274353 2018
CUI: C0011847
Disease: Diabetes
Diabetes 		0.100 GeneticVariation disease BEFREE Chalcones, originated from natural product, have been broadly studied their biological activity against various proteins which at the molecular level, are responsible for the progress of the diseases in cancer (e.g. kinases), inflammation (oxidoreductases), atherosclerosis (cathepsins receptor), and diabetes (e.g.α-glucosidase). 31808389 2019
CUI: C0011847
Disease: Diabetes
Diabetes 		0.100 Biomarker disease BEFREE α-Glucosidase inhibitors have been approved as therapeutic agents for diabetes. 31555798 2019