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 Biomarker disease CTD_human
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		0.130 Biomarker group HPO
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.110 Biomarker phenotype HPO
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		0.100 Biomarker disease HPO
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C3714745
Disease: Malabsorption
Malabsorption 		0.100 Biomarker phenotype HPO
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		0.100 Biomarker phenotype HPO
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.100 Biomarker disease BEFREE <i>Actinoplanes</i> sp.SE50/110 is the wild type of industrial production strains of the fine-chemical acarbose (acarviosyl-maltose), which is used as α-glucosidase inhibitor in the treatment of type II diabetes. 31736895 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.100 Biomarker disease BEFREE 1-Deoxynojirimycin (DNJ) has been known as a potent α-glucosidase inhibitor from mulberry leaves and considered beneficial in prevention of type 2 diabetes. 31061284 2019
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.100 Biomarker disease BEFREE 5,7-Dimethoxy-3-(2'-hydroxybenzyl)-4-chromanone inhibits α-glucosidase in vitro and alleviates postprandial hyperglycemia in diabetic mice. 31550448 2019
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 Biomarker disease BEFREE Glycogen storage disease type II (GSDII) is an autosomal recessive disorder resulting from inherited deficiency of the enzyme lysosomal acid alpha-glucosidase. 10071199 1999
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.100 Biomarker disease BEFREE Glycogen storage disease type II (GSDII) is an autosomal recessive disorder resulting from inherited deficiency of the enzyme lysosomal acid alpha-glucosidase. 10071199 1999
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE Glycogen storage disease type II (GSD II) is an autosomal recessive inherited disorder due to the deficiency of the enzyme acid alpha-glucosidase, which causes an accumulation of glycogen in lysosomes. 10899751 2000
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.100 GeneticVariation disease BEFREE Glycogen storage disease type II (GSD II) is an autosomal recessive inherited disorder due to the deficiency of the enzyme acid alpha-glucosidase, which causes an accumulation of glycogen in lysosomes. 10899751 2000
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE Glycogen storage disease type II (GSDII) results from deleterious mutations in acid alpha-glucosidase gene. 11343339 2001
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.100 GeneticVariation disease BEFREE Glycogen storage disease type II (GSDII) results from deleterious mutations in acid alpha-glucosidase gene. 11343339 2001
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 Biomarker disease BEFREE Deficiency of acid maltase (acid alpha-glucosidase), a lysosomal enzyme that degrades glycogen, results in glycogenosis type II, an autosomal recessive disease whose manifestations and severity largely depend on the level of residual enzyme activity. 11511924 2001
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE Glycogen storage disease type II (Pompe disease) is inherited by autosomal recessive transmission and caused by a deficiency of acid alpha-glucosidase (GAA), resulting in impaired degradation and lysosomal accumulation of glycogen. 14643388 2003
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.100 GeneticVariation disease BEFREE Glycogen storage disease type II (Pompe disease) is inherited by autosomal recessive transmission and caused by a deficiency of acid alpha-glucosidase (GAA), resulting in impaired degradation and lysosomal accumulation of glycogen. 14643388 2003
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease. 14972326 2004
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.100 GeneticVariation disease BEFREE Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease. 14972326 2004
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 Biomarker disease BEFREE Glycogenosis type II (Pompe disease) is a lysosomal storage disease caused by deficiency of acid alpha-glucosidase (acid maltase). 15668445 2005
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.100 Biomarker disease BEFREE Glycogenosis type II (Pompe disease) is a lysosomal storage disease caused by deficiency of acid alpha-glucosidase (acid maltase). 15668445 2005
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 Biomarker disease BEFREE Glycogen storage disease II is an inherited progressive muscular disease in which the lack of functional acid 1-4 alpha-glucosidase results in the accumulation of lysosomal glycogen. 15797585 2005
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 Biomarker disease BEFREE Glycogen storage disease type II (Pompe disease) causes death in infancy from cardiorespiratory failure due to acid alpha-glucosidase (GAA; acid maltase) deficiency. 15922959 2005