Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0027651 Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 10153 1571
C0006826 Malignant Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 8577 1441
C1306459 Primary malignant neoplasm group Neoplasms Neoplastic Process disease of cellular proliferation 8221 1374
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
C0020538 Hypertensive disease group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1973 871
C0038454 Cerebrovascular accident group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the cardiovascular system 1515 412
C3714756 Intellectual Disability group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 1219 153
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
C1608408 Malignant transformation phenotype Neoplastic Process 1027 20
C0027796 Neuralgia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 755 16
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
C0085207 Gestational Diabetes phenotype Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of prenatal development or birth; Abnormality of the endocrine system 608 206
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
C2936719 Mechanical Allodynia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 362 4
C0020429 Hyperalgesia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 347 4
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
C0013146 Drug abuse group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction disease of mental health 300 38
C0149721 Left Ventricular Hypertrophy disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 276 57
C0007095 Carcinoid Tumor phenotype Neoplasms Neoplastic Process Abnormality of the nervous system; Abnormality of the endocrine system; Neoplasm 231 1