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.
Abnormality of metabolism/homeostasis
phenotype Finding 171 5 0.100 None 0
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE
phenotype Finding 175 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: C3714745
Disease: Malabsorption
Malabsorption
phenotype Digestive System Diseases Finding 175 3 0.100 None 0
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 852 704 0.010 None 1.000 1 1979 1979
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 280 67 0.010 None 1.000 1 1983 1983
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 406 10 0.010 None 1.000 1 1991 1991
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.010 None 1.000 1 1991 1991
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm
group Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2492 85 0.010 None 1.000 1 1991 1991
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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.010 None 1.000 1 1995 1995
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: C1332460
Disease: Barrett's Adenocarcinoma
Barrett's Adenocarcinoma
disease Neoplastic Process 31 0.010 None 1.000 1 1996 1996
CUI: C1333762
Disease: Gastric Cardia Adenocarcinoma
Gastric Cardia Adenocarcinoma
disease Neoplastic Process 65 11 0.010 None 1.000 1 1996 1996
Primary adenocarcinoma of lower third of esophagus due to Barrett esophagus
disease Neoplastic Process 31 0.010 None 1.000 1 1996 1996
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: 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: C0543515
Disease: Sucrase deficiency
Sucrase deficiency
disease Disease or Syndrome 1 0.010 None 1.000 1 1998 1998
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: C0162429
Disease: Malnutrition
Malnutrition
disease Nutritional and Metabolic Diseases Disease or Syndrome 417 29 0.020 None 1.000 2 1998 2000
CUI: C0038187
Disease: Starvation
Starvation
phenotype Nutritional and Metabolic Diseases Finding 10 0.200 None 1.000 1 2000 2000
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: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia
phenotype Disease or Syndrome 266 24 0.020 None 1.000 2 1993 2002
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
Congenital Disorders of Glycosylation
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 102 38 0.010 None 1.000 1 2004 2004