Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0009402 Colorectal Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 5473 1962
C0002395 Alzheimer's Disease disease Nervous System Diseases; Mental Disorders Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 3397 1843
C0004153 Atherosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 2044 281
C0003850 Arteriosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 2006 267
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
C1956346 Coronary Artery Disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1708 1577
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 1658 591
C0476089 Endometrial Carcinoma disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 1597 326
C0010068 Coronary heart disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 1576 1178
C0010054 Coronary Arteriosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1282 440
C0242383 Age related macular degeneration disease Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 685 663
C0149931 Migraine Disorders group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 512 264
C0020443 Hypercholesterolemia disease Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 489 123
C0020473 Hyperlipidemia disease Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis 472 83
C0020557 Hypertriglyceridemia phenotype Nutritional and Metabolic Diseases Disease or Syndrome 340 169
C0020445 Hypercholesterolemia, Familial disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 203 1423
C0745103 Hyperlipoproteinemia Type IIa disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 201 661
C0014173 Endometrial Hyperplasia disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system 143 6
C0020476 Hyperlipoproteinemias disease Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis 49 7
C0020479 Hyperlipoproteinemia Type III disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 28 24
C0263420 Hyperkeratosis lenticularis perstans disease Skin and Connective Tissue Diseases Disease or Syndrome Abnormality of the integument 18 11
C0342880 Polygenic hypercholesterolemia disease Disease or Syndrome 10 3
C2673196 LIPOPROTEIN GLOMERULOPATHY disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 5 3