SI, sucrase-isomaltase, 6476

N. diseases: 117; N. variants: 15
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		group Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 239 0.130 None 1.000 3 2006 2019
CUI: C0029438
Disease: Massive Osteolyses
Massive Osteolyses 		disease Musculoskeletal Diseases Disease or Syndrome 44 11 0.020 None 1.000 2 2014 2019
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 596 81 0.020 None 1.000 2 2017 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.020 None 1.000 2 2018 2018
CUI: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia 		phenotype Disease or Syndrome 266 24 0.020 None 1.000 2 1993 2002
CUI: C0751173
Disease: Glycogen Storage Disease Type II, Infantile
Glycogen Storage Disease Type II, Infantile 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 4 4 0.020 None 1.000 2 1996 2001
CUI: C0162429
Disease: Malnutrition
Malnutrition 		disease Nutritional and Metabolic Diseases Disease or Syndrome 417 29 0.020 None 1.000 2 1998 2000
CUI: C0342257
Disease: Complications of Diabetes Mellitus
Complications of Diabetes Mellitus 		group Endocrine System Diseases Disease or Syndrome 240 35 0.020 None 1.000 2 2019 2019
CUI: C0259817
Disease: Xerosis
Xerosis 		disease Digestive System Diseases; Nervous System Diseases Disease or Syndrome 4 0.020 None 1.000 2 2001 2007
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		disease Disease or Syndrome 741 81 0.020 None 1.000 2 2017 2018
CUI: C0021831
Disease: Intestinal Diseases
Intestinal Diseases 		group Digestive System Diseases Disease or Syndrome 209 13 0.020 None 1.000 2 2009 2017
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 560 635 0.020 None 1.000 2 2008 2019
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases Disease or Syndrome 56 39 0.020 None 1.000 2 2014 2019
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 472 83 0.020 None 1.000 2 2017 2017
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.020 None 1.000 2 2016 2017
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 478 60 0.020 None 1.000 2 1993 1996
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.020 None 1.000 2 2016 2017
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 86 34 0.010 None 1.000 1 2018 2018
CUI: C0009319
Disease: Colitis
Colitis 		disease Digestive System Diseases Disease or Syndrome 1135 15 0.200 None 1.000 1 2006 2006
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.010 None 1.000 1 1995 1995
CUI: C0699848
Disease: Disaccharidase deficiency
Disaccharidase deficiency 		disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2006 2006
CUI: C0545044
Disease: Acrokeratoelastoidosis of Costa
Acrokeratoelastoidosis of Costa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
CUI: C0543515
Disease: Sucrase deficiency
Sucrase deficiency 		disease Disease or Syndrome 1 0.010 None 1.000 1 1998 1998
CUI: C0009806
Disease: Constipation
Constipation 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 424 57 0.010 None 1.000 1 2018 2018
CUI: C0410158
Disease: Muscle damage
Muscle damage 		phenotype Acquired Abnormality 163 4 0.010 None 1.000 1 2018 2018