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: 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: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 522 0.200 None 1.000 1 2003 2003
CUI: C0035126
Disease: Reperfusion Injury
Reperfusion Injury 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Injury or Poisoning 300 0.200 None 1.000 1 1998 1998
CUI: C0038187
Disease: Starvation
Starvation 		phenotype Nutritional and Metabolic Diseases Finding 10 0.200 None 1.000 1 2000 2000
CUI: C0009319
Disease: Colitis
Colitis 		disease Digestive System Diseases Disease or Syndrome 1135 15 0.200 None 1.000 1 2006 2006
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance 		phenotype Nutritional and Metabolic Diseases Pathologic Function 162 53 0.200 None 1.000 1 1999 1999
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: C0011991
Disease: Diarrhea
Diarrhea 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 632 63 0.110 None 1.000 1 1998 1998
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: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.100 None 1.000 49 2010 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: C0877008
Disease: Enzyme inhibition disorder
Enzyme inhibition disorder 		phenotype Disease or Syndrome 171 1 0.100 None 1.000 22 2017 2020
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 130 8 0.100 None 1.000 10 1995 2019
CUI: C3714745
Disease: Malabsorption
Malabsorption 		phenotype Digestive System Diseases Finding 175 3 0.100 None 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype Finding 171 5 0.100 None 0
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 242 99 0.100 None 0
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		phenotype Finding 175 0.100 None 0
CUI: C4732730
Disease: Blood spots
Blood spots 		disease Disease or Syndrome 117 0.080 None 1.000 8 2009 2018
CUI: C0026848
Disease: Myopathy
Myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.080 None 0.875 8 2001 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: 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: 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