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: 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: 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: C0026848
Disease: Myopathy
Myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.080 None 0.875 8 2001 2019
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 63 16 0.060 None 1.000 6 1997 2018
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.050 None 0.800 5 1 1988 2011
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		group Neoplasms Neoplastic Process 2235 168 0.040 None 0.750 4 1991 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.030 None 1.000 3 2017 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.030 None 1.000 3 2017 2020
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: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 945 50 0.030 None 1.000 3 2017 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.030 None 1.000 3 1996 2017
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1515 85 0.030 None 1.000 3 2017 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.030 None 1.000 3 2017 2019
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: 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: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None 1.000 1 2018 2018
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		group Digestive System Diseases Disease or Syndrome 1577 605 0.010 None 1.000 1 2018 2018
CUI: C0023895
Disease: Liver diseases
Liver diseases 		group Digestive System Diseases Disease or Syndrome 1019 100 0.010 None 1.000 1 2017 2017
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		group Nervous System Diseases Disease or Syndrome 171 50 0.010 None 1.000 1 2019 2019
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: C0037822
Disease: Speech Disorders
Speech Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 183 7 0.010 None 1.000 1 2017 2017
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.010 None 1.000 1 2018 2018
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		group Infections Disease or Syndrome 1471 42 0.010 None 1.000 1 2019 2019
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		group Mental or Behavioral Dysfunction 360 56 0.010 None 1.000 1 2017 2017
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