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: 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: 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: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.010 Biomarker disease BEFREE It remains unknown whether or not the enzyme deficiency in homozygotes for isozyme 2 of acid alpha-glucosidase will be sufficient to cause glycogen accumulation and lead to the development of muscular dystrophy-like disease later in life. 6401921 1983
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 AlteredExpression disease BEFREE Double immunodiffusion studies showed the presence of catalytically inactive acid alpha-glucosidase enzyme protein in canine GSD II. 6391168 1984
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 Biomarker disease BEFREE Demonstration of acid alpha-glucosidase in different types of Pompe disease by use of an immunochemical method. 6442343 1985
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 Biomarker disease BEFREE Diagnosis of Pompe's disease using leukocyte preparations. Kinetic and immunological studies of 1,4-alpha-glucosidase in human fetal and adult tissues and cultured cells. 3891151 1985
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.100 Biomarker disease BEFREE Diagnosis of Pompe's disease using leukocyte preparations. Kinetic and immunological studies of 1,4-alpha-glucosidase in human fetal and adult tissues and cultured cells. 3891151 1985
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.100 Biomarker disease BEFREE Demonstration of acid alpha-glucosidase in different types of Pompe disease by use of an immunochemical method. 6442343 1985
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 Biomarker disease BEFREE Genetic deficiency of acid alpha-glucosidase results in glycogen-storage disease type II, encompassing a spectrum of disorders of varying severity. 3540946 1986
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: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.100 Biomarker disease BEFREE Genetic deficiency of acid alpha-glucosidase results in glycogen-storage disease type II, encompassing a spectrum of disorders of varying severity. 3540946 1986
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 Biomarker disease BEFREE Total RNA from a patient with the adult form of glycogenosis type II is not able to direct the synthesis of normal amounts of alpha-glucosidase in vitro. 3315002 1987