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: C0543515
Disease: Sucrase deficiency
Sucrase deficiency 		disease Disease or Syndrome 1 0.010 None 1.000 1 1998 1998
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: 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: 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: C0259817
Disease: Xerosis
Xerosis 		disease Digestive System Diseases; Nervous System Diseases Disease or Syndrome 4 0.020 None 1.000 2 2001 2007
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: C0264492
Disease: Chronic respiratory failure
Chronic respiratory failure 		disease Nutritional and Metabolic Diseases; Respiratory Tract Diseases Disease or Syndrome 5 1 0.010 None 1.000 1 2013 2013
CUI: C0264652
Disease: Hypertensive heart failure
Hypertensive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 5 0.010 None 1.000 1 2019 2019
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: 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: C0038187
Disease: Starvation
Starvation 		phenotype Nutritional and Metabolic Diseases Finding 10 0.200 None 1.000 1 2000 2000
CUI: C0741281
Disease: atrial fibrillation new onset
atrial fibrillation new onset 		disease Disease or Syndrome 18 0.010 None < 0.001 1 2018 2018
CUI: C1862103
Disease: Brachydactyly type C
Brachydactyly type C 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 19 8 0.010 None 1.000 1 2019 2019
CUI: C2609259
Disease: Symphysis Pubis Dysfunction
Symphysis Pubis Dysfunction 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 23 4 0.010 None 1.000 1 2017 2017
CUI: C0028064
Disease: Niemann-Pick Diseases
Niemann-Pick Diseases 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 25 23 0.010 None 1.000 1 2018 2018
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		disease Male Urogenital Diseases Congenital Abnormality 27 210 0.010 None 1.000 1 2011 2011
CUI: C0267971
Disease: Storage disease
Storage disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 28 1 0.010 None 1.000 1 2017 2017
CUI: C1332460
Disease: Barrett's Adenocarcinoma
Barrett's Adenocarcinoma 		disease Neoplastic Process 31 0.010 None 1.000 1 1996 1996
CUI: C4283978
Disease: Primary adenocarcinoma of lower third of esophagus due to Barrett esophagus
Primary adenocarcinoma of lower third of esophagus due to Barrett esophagus 		disease Neoplastic Process 31 0.010 None 1.000 1 1996 1996
CUI: C0029438
Disease: Massive Osteolyses
Massive Osteolyses 		disease Musculoskeletal Diseases Disease or Syndrome 44 11 0.020 None 1.000 2 2014 2019
CUI: C2960127
Disease: Heart failure with normal ejection fraction
Heart failure with normal ejection fraction 		disease Cardiovascular Diseases Disease or Syndrome 47 0.010 None 1.000 1 2019 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: C1258085
Disease: Barrett Epithelium
Barrett Epithelium 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 52 0.010 None 1.000 1 1993 1993
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: C0019104
Disease: Hemorrhagic Fevers, Viral
Hemorrhagic Fevers, Viral 		disease Infections Disease or Syndrome 57 0.010 None 1.000 1 2018 2018