CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0596263 Carcinogenesis phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355
C4722085 Malignant neoplasm of colon and/or rectum disease Neoplastic Process 3669 502
C0011881 Diabetic Nephropathy disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1189 238
C1623038 Cirrhosis disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110
C2316810 Chronic kidney disease stage 5 disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome Abnormality of the genitourinary system 666 194
C0948089 Acute Coronary Syndrome disease Cardiovascular Diseases Disease or Syndrome 440 139
C0149721 Left Ventricular Hypertrophy disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 403 67
C0002792 anaphylaxis phenotype Immune System Diseases Disease or Syndrome Abnormality of the immune system 180 4
C0410158 Muscle damage phenotype Acquired Abnormality 163 4
C1970943 MAJOR AFFECTIVE DISORDER 4 disease Mental Disorders Mental or Behavioral Dysfunction 160 34
C0162770 Right Ventricular Hypertrophy disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 160 6
C1970945 MAJOR AFFECTIVE DISORDER 6 disease Mental Disorders Mental or Behavioral Dysfunction 160 34
C0340100 High altitude pulmonary edema disease Respiratory Tract Diseases Disease or Syndrome 56 45
C1719495 Aggressive periodontitis, generalized disease Stomatognathic Diseases Disease or Syndrome 56 16
C0342882 Familial hypercholesterolemia - heterozygous disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 42 34
C0152451 Chronic glomerulonephritis disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 41 7
C1277187 Left ventricular systolic dysfunction disease Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 41 11
C0035067 Renal Artery Stenosis disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome Abnormality of the genitourinary system; Abnormality of the cardiovascular system 37 8
C0333559 Infarction, Lacunar disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 36 18
C0598428 genetic hypertension disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 34 2
C1096293 Macroangiopathy disease Disease or Syndrome 31 6
C0344911 Left ventricular dilatation disease Congenital Abnormality 17 3
C0020538 Hypertensive disease group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 2322 1085
C0004096 Asthma disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the respiratory system 2096 1536
C0004153 Atherosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 2044 281