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: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 AlteredExpression disease BEFREE If compared with infantile AMD (Pompe's disease) our cases have a much higher residual acid alpha-glucosidase activity and show the presence of an antigenically detectable protein. 60470 1976
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.100 AlteredExpression disease BEFREE If compared with infantile AMD (Pompe's disease) our cases have a much higher residual acid alpha-glucosidase activity and show the presence of an antigenically detectable protein. 60470 1976
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.010 AlteredExpression disease BEFREE Moreover, alpha-glucosidase levels in cystic fibrosis patients correlated with the degree of clinical impairment as measured by the Schwachman score. 110502 1979
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 AlteredExpression disease BEFREE alpha-glucosidase activity in human leucocytes: choice of lymphocytes for the diagnosis of Pompe's disease and the carrier state. 361294 1978
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.100 AlteredExpression disease BEFREE alpha-glucosidase activity in human leucocytes: choice of lymphocytes for the diagnosis of Pompe's disease and the carrier state. 361294 1978
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 AlteredExpression disease BEFREE Hybrids between thymidine kinase-deficient mouse cells and fibroblasts from a patient with Pompe disease that contained human chromosome 17 were found not to express human acid alpha-glucosidase. 388444 1979
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.100 AlteredExpression disease BEFREE Hybrids between thymidine kinase-deficient mouse cells and fibroblasts from a patient with Pompe disease that contained human chromosome 17 were found not to express human acid alpha-glucosidase. 388444 1979
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 Biomarker disease BEFREE The lysosomal enzyme acid alpha glucosidase (GAA) or acid maltase is deficient in glycogen storage disease type II. 1684505 1991
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.100 Biomarker disease BEFREE The lysosomal enzyme acid alpha glucosidase (GAA) or acid maltase is deficient in glycogen storage disease type II. 1684505 1991
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: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 Biomarker phenotype BEFREE In addition, all colon carcinoma metastases examined were positive for sucrase-isomaltase. 1707385 1991
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: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.010 Biomarker group BEFREE In addition, all colon carcinoma metastases examined were positive for sucrase-isomaltase. 1707385 1991
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 AlteredExpression disease BEFREE These studies emphasize the effect of allelic diversity on the level of residual acid alpha-glucosidase activity and on the clinical course of glycogenosis type II. 2403755 1990
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.100 AlteredExpression disease BEFREE These studies emphasize the effect of allelic diversity on the level of residual acid alpha-glucosidase activity and on the clinical course of glycogenosis type II. 2403755 1990
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 Biomarker disease BEFREE First trimester diagnosis of Pompe's disease (glycogenosis type II) with normal outcome: assay of acid alpha-glucosidase in chorionic villous biopsy using antibodies. 3098466 1986
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.100 Biomarker disease BEFREE First trimester diagnosis of Pompe's disease (glycogenosis type II) with normal outcome: assay of acid alpha-glucosidase in chorionic villous biopsy using antibodies. 3098466 1986
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE A unique family is presented which consists of a patient with the juvenile muscular dystrophy form of glycogenosis type II and four healthy individuals, both parents and sisters, with low acid alpha-glucosidase activity. 3282727 1988