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: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 194 269 0.100 None 0.994 163 1 1976 2019
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 51 16 0.100 None 0.993 136 1 1976 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.100 None 1.000 95 2004 2020
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1098 108 0.100 None 1.000 35 2017 2020
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.100 None 1.000 33 2010 2020
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 12 0.790 strong 1.000 17 12 1996 2018
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.080 None 1.000 8 2017 2020
CUI: C3888924
Disease: Glycogen storage disease due to acid maltase deficiency, infantile onset
Glycogen storage disease due to acid maltase deficiency, infantile onset 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 7 6 0.080 None 1.000 8 1 2010 2019
CUI: C4732730
Disease: Blood spots
Blood spots 		disease Disease or Syndrome 117 0.080 None 1.000 8 2009 2018
CUI: C0342753
Disease: Glycogen storage disease due to acid maltase deficiency, late-onset
Glycogen storage disease due to acid maltase deficiency, late-onset 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 8 0.070 None 1.000 7 2010 2019
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 420 42 0.060 None 1.000 6 2017 2020
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome 		disease Digestive System Diseases Disease or Syndrome 429 52 0.050 None 1.000 5 2018 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.040 None 1.000 4 2018 2019
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		disease Respiratory Tract Diseases Disease or Syndrome 319 23 0.040 None 1.000 4 2008 2019
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.030 None 1.000 3 2016 2018
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: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 560 635 0.020 None 1.000 2 2008 2019
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.020 None 1.000 2 2016 2017
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: 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: C0029438
Disease: Massive Osteolyses
Massive Osteolyses 		disease Musculoskeletal Diseases Disease or Syndrome 44 11 0.020 None 1.000 2 2014 2019
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: C0162429
Disease: Malnutrition
Malnutrition 		disease Nutritional and Metabolic Diseases Disease or Syndrome 417 29 0.020 None 1.000 2 1998 2000
CUI: C0259817
Disease: Xerosis
Xerosis 		disease Digestive System Diseases; Nervous System Diseases Disease or Syndrome 4 0.020 None 1.000 2 2001 2007