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: C0001231
Disease: ACTH Syndrome, Ectopic
ACTH Syndrome, Ectopic
disease Neoplasms Disease or Syndrome 11 0.010 None < 0.001 1 2019 2019
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis
disease Digestive System Diseases Disease or Syndrome 435 51 0.010 None 1.000 1 2018 2018
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
disease Hemic and Lymphatic Diseases Disease or Syndrome 154 31 0.010 None 1.000 1 2019 2019
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 434 138 0.010 None 1.000 1 2019 2019
CUI: C0002963
Disease: Angina Pectoris, Variant
Angina Pectoris, Variant
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 26 4 0.010 None 1.000 1 2018 2018
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 108 206 0.010 None 1.000 1 2019 2019
CUI: C0003123
Disease: Anorexia
Anorexia
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 242 10 0.010 None 1.000 1 2018 2018
CUI: C0003467
Disease: Anxiety
Anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.010 None 1.000 1 2017 2017
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
group Mental Disorders Mental or Behavioral Dysfunction 840 163 0.010 None 1.000 1 2017 2017
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm
disease Cardiovascular Diseases Disease or Syndrome 278 19 0.010 None 1.000 1 2018 2018
CUI: C0003509
Disease: Aortitis
Aortitis
disease Cardiovascular Diseases Disease or Syndrome 15 0.010 None 1.000 1 2017 2017
CUI: C0003615
Disease: Appendicitis
Appendicitis
disease Digestive System Diseases; Infections Disease or Syndrome 83 10 0.010 None 1.000 1 2017 2017
Congenital arteriovenous malformation
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 163 23 0.010 None 1.000 1 2017 2017
CUI: C0003962
Disease: Ascites
Ascites
phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 198 7 0.010 None 1.000 1 2018 2018
CUI: C0004245
Disease: Atrioventricular Block
Atrioventricular Block
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 63 17 0.010 None 1.000 1 2018 2018
CUI: C0004269
Disease: Child attention deficit disorder
Child attention deficit disorder
disease Mental Disorders Disease or Syndrome 26 0.010 None 1.000 1 2017 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
group Immune System Diseases Disease or Syndrome 1758 428 0.010 None 1.000 1 2017 2017
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 107 84 0.010 None 1.000 1 2018 2018
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.010 None 1.000 1 2019 2019
CUI: C0005956
Disease: Bone Marrow Diseases
Bone Marrow Diseases
group Hemic and Lymphatic Diseases Disease or Syndrome 84 3 0.010 None 1.000 1 2019 2019
CUI: C0005967
Disease: Bone neoplasms
Bone neoplasms
group Neoplasms; Musculoskeletal Diseases Neoplastic Process 151 4 0.010 None 1.000 1 2019 2019
CUI: C0006105
Disease: Brain Abscess
Brain Abscess
disease Infections; Nervous System Diseases Disease or Syndrome 14 1 0.010 None 1.000 1 2017 2017
CUI: C0006111
Disease: Brain Diseases
Brain Diseases
group Nervous System Diseases Disease or Syndrome 345 10 0.010 None 1.000 1 2019 2019
CUI: C0006625
Disease: Cachexia
Cachexia
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 273 11 0.010 None 1.000 1 2019 2019
Noninfiltrating Intraductal Carcinoma
disease Neoplasms Neoplastic Process 486 13 0.010 None 1.000 1 2017 2017