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: 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: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1293 222 0.010 None 1.000 1 2017 2017
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: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 294 116 0.080 None 1.000 8 1 2011 2018
CUI: C0279607
Disease: Adult Hepatocellular Carcinoma
Adult Hepatocellular Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 150 14 0.010 None 1.000 1 1 2013 2013
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma
disease Neoplasms Neoplastic Process 143 6 0.010 None 1.000 1 2004 2004
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1377 72 0.040 None 0.750 4 1 2011 2015
Alanine aminotransferase measurement
phenotype Laboratory Procedure 41 77 0.100 None 1.000 10 8 2008 2019
CUI: C0236663
Disease: Alcohol withdrawal syndrome
Alcohol withdrawal syndrome
disease Chemically-Induced Disorders; Mental Disorders Disease or Syndrome 67 6 0.010 None 1.000 1 2019 2019
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: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 577 441 0.010 None 1.000 1 1 2012 2012
CUI: C0023896
Disease: Alcoholic Liver Diseases
Alcoholic Liver Diseases
group Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 195 20 0.400 None 1.000 22 2 2010 2019
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 2011 2011
Aspartate aminotransferase measurement
phenotype Laboratory Procedure 57 76 0.100 None 1.000 4 4 2010 2019
CUI: C0004096
Disease: Asthma
Asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.010 None 1.000 1 1 2018 2018
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: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 2011 2011
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: 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: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.010 None 1.000 1 2017 2017
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
group Cardiovascular Diseases Disease or Syndrome 1756 711 0.070 None 1.000 7 1 2015 2020
CUI: C1301700
Disease: Cardiovascular morbidity
Cardiovascular morbidity
phenotype Disease or Syndrome 75 2 0.010 None 1.000 1 2017 2017
CUI: C0577631
Disease: Carotid Atherosclerosis
Carotid Atherosclerosis
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 219 79 0.020 None 1.000 2 1 2013 2016
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 527 263 0.010 None 1.000 1 1 2018 2018
CUI: C0279606
Disease: Childhood Hepatocellular Carcinoma
Childhood Hepatocellular Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 146 17 0.010 None 1.000 1 1 2013 2013