Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0006142 Malignant neoplasm of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 6941 3417
C0678222 Breast Carcinoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the breast 6776 2793
C0007102 Malignant tumor of colon disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 2969 688
C0699790 Colon Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2832 275
C0027051 Myocardial Infarction disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1800 680
C0018802 Congestive heart failure disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1760 165
C1956346 Coronary Artery Disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1708 1577
C0010068 Coronary heart disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 1576 1178
C0018801 Heart failure disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1499 201
C0010054 Coronary Arteriosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1282 440
C0014544 Epilepsy disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 1215 339
C1611743 Familial (FPAH) disease Disease or Syndrome 1075 276
C0004238 Atrial Fibrillation disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 939 584
C3266262 Multiple Chronic Conditions disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 929 42
C0018784 Sensorineural Hearing Loss (disorder) disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the ear 783 111
C1449563 Cardiomyopathy, Familial Idiopathic disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 773 243
C0155626 Acute myocardial infarction disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 766 118
C0151744 Myocardial Ischemia disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 756 103
C0007194 Hypertrophic Cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 560 635
C0022104 Irritable Bowel Syndrome disease Digestive System Diseases Disease or Syndrome syndrome 429 52
C1857276 Trichohepatoenteric Syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease 424 28
C0018790 Cardiac Arrest disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 411 50
C0007786 Brain Ischemia disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the cardiovascular system 358 5
C0027831 Neurofibromatosis 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process genetic disease 311 827
C1397307 Cardiac fibrosis disease Disease or Syndrome 297 3