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: C0267925
Disease: Bile Duct Stenosis
Bile Duct Stenosis 		disease Digestive System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2013 2013
CUI: C1622502
Disease: Portal cirrhosis
Portal cirrhosis 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 4 4 0.100 None 1.000 1 1 2015 2015
CUI: C0428321
Disease: Measurement of liver enzyme
Measurement of liver enzyme 		phenotype Laboratory Procedure 7 10 0.100 None 1.000 1 1 2008 2008
CUI: C1287351
Disease: Finding of liver enzyme levels
Finding of liver enzyme levels 		phenotype Laboratory or Test Result 7 10 0.100 None 1.000 1 1 2008 2008
CUI: C1868117
Disease: POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA
POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 7 1 0.010 None 1.000 1 1 2018 2018
CUI: C0810031
Disease: alcohol-related liver disease
alcohol-related liver disease 		disease Digestive System Diseases Disease or Syndrome 11 2 0.010 None 1.000 1 1 2019 2019
CUI: C1535964
Disease: Cholestatic pruritus
Cholestatic pruritus 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Sign or Symptom 15 0.010 None 1.000 1 2014 2014
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 15 10 0.010 None 1.000 1 1 2018 2018
CUI: C3805083
Disease: Portal fibrosis
Portal fibrosis 		phenotype Digestive System Diseases Disease or Syndrome 15 0.010 None 1.000 1 2019 2019
CUI: C4317171
Disease: Adolescent Obesity
Adolescent Obesity 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 18 9 0.010 None 1.000 1 2009 2009
CUI: C0033046
Disease: Premenstrual syndrome
Premenstrual syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 21 1 0.010 None 1.000 1 1 2018 2018
CUI: C2936476
Disease: Chronic Liver Failure
Chronic Liver Failure 		disease Digestive System Diseases Disease or Syndrome 25 1 0.010 None 1.000 1 1 2019 2019
CUI: C0205700
Disease: Asymmetric Septal Hypertrophy
Asymmetric Septal Hypertrophy 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 31 7 0.010 None 1.000 1 2015 2015
CUI: C0878521
Disease: Beta thalassemia trait
Beta thalassemia trait 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 34 5 0.010 None < 0.001 1 2017 2017
CUI: C4324374
Disease: Renal tubular injury
Renal tubular injury 		disease Disease or Syndrome 36 1 0.010 None 1.000 1 1 2020 2020
CUI: C0201836
Disease: Alanine aminotransferase measurement
Alanine aminotransferase measurement 		phenotype Laboratory Procedure 41 77 0.100 None 1.000 10 8 2008 2019
CUI: C1883008
Disease: Serum Alanine Aminotransferase Measurement
Serum Alanine Aminotransferase Measurement 		phenotype Laboratory Procedure 41 77 0.100 None 1.000 10 8 2008 2019
CUI: C2936179
Disease: Obesity, Visceral
Obesity, Visceral 		phenotype Nutritional and Metabolic Diseases Sign or Symptom 55 3 0.020 None 0.500 2 1 2010 2019
CUI: C0201899
Disease: Aspartate aminotransferase measurement
Aspartate aminotransferase measurement 		phenotype Laboratory Procedure 57 76 0.100 None 1.000 4 4 2010 2019
CUI: C0276623
Disease: Chronic viral hepatitis
Chronic viral hepatitis 		disease Digestive System Diseases Disease or Syndrome 59 8 0.020 None 1.000 2 1 2015 2018
CUI: C3714619
Disease: Insulin resistance syndrome
Insulin resistance syndrome 		disease Nutritional and Metabolic Diseases Disease or Syndrome 62 15 0.010 None 1.000 1 1 2016 2016
CUI: C2750440
Disease: FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 		disease Finding 63 2 0.500 None 1.000 5 2 2008 2016
CUI: C2750441
Disease: LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1
LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1 		phenotype Finding 63 0.200 None 1.000 1 2015 2015
CUI: C3150651
Disease: FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2 		phenotype Finding 63 0.200 None 1.000 1 2015 2015
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		disease Eye Diseases Disease or Syndrome 67 9 0.020 None 1.000 2 1 2013 2018