CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0025202 melanoma disease Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 2890 352
C0011860 Diabetes Mellitus, Non-Insulin-Dependent disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 2694 1598
C0028754 Obesity disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Growth abnormality 2459 900
C0024117 Chronic Obstructive Airway Disease disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 1213 301
C2711227 Steatohepatitis disease Digestive System Diseases Disease or Syndrome Abnormality of the digestive system 1053 67
C3203102 Idiopathic pulmonary arterial hypertension disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system; Abnormality of the cardiovascular system 695 24
C1328504 Hormone refractory prostate cancer disease Neoplasms; Male Urogenital Diseases Neoplastic Process 683 29
C0020459 Hyperinsulinism disease Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism; disease of anatomical entity Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 492 59
C0022104 Irritable Bowel Syndrome disease Digestive System Diseases Disease or Syndrome syndrome 421 51
C0220633 Uveal melanoma disease Neoplasms; Eye Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the eye 371 10
C2973725 Pulmonary arterial hypertension disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome Abnormality of the respiratory system; Abnormality of the cardiovascular system 314 5
C0149721 Left Ventricular Hypertrophy disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 276 57
C0032897 Prader-Willi Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome; disease of mental health 167 7
C0028768 Obsessive-Compulsive Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 166 94
C0040517 Gilles de la Tourette syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome disease of mental health 164 49
C0152171 Idiopathic pulmonary hypertension disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 156 5
C0024809 Marijuana Abuse disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction disease of mental health 147 18
C0003123 Anorexia disease Pathological Conditions, Signs and Symptoms Disease or Syndrome Abnormality of the digestive system 128 10
C0154723 Migraine with Aura disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 82 46
C0003431 Antisocial Personality Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health 63 6
C0338480 Common Migraine disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 63 48
C0235527 Heart Failure, Right-Sided disease Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 44 0
C2939447 Right ventricular failure disease Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 21 0
C0086025 Codependency disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 20 2
C4284120 Ecstasy related disorders disease Mental or Behavioral Dysfunction 15 0