CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0027627 Neoplasm Metastasis phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327
C1306460 Primary malignant neoplasm of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981
C4722085 Malignant neoplasm of colon and/or rectum disease Neoplastic Process 3669 502
C0030193 Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Constitutional symptom 1554 196
C0036690 Septicemia disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome Abnormality of the immune system 1285 141
C0041296 Tuberculosis disease Infections Disease or Syndrome 1256 328
C0011881 Diabetic Nephropathy disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1189 238
C0022660 Kidney Failure, Acute disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome Abnormality of the genitourinary system 826 32
C0278996 Malignant Head and Neck Neoplasm disease Neoplasms Neoplastic Process Neoplasm 767 118
C0153381 Malignant neoplasm of mouth group Neoplasms; Stomatognathic Diseases Neoplastic Process 756 184
C0220641 Lip and Oral Cavity Carcinoma disease Neoplasms; Stomatognathic Diseases Neoplastic Process 734 172
C0374997 Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site disease Disease or Syndrome 593 24
C2062441 Influenza A disease Disease or Syndrome 563 19
C0079772 T-Cell Lymphoma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process Neoplasm; Abnormality of blood and blood-forming tissues 485 24
C0524909 Hepatitis B, Chronic disease Digestive System Diseases; Infections Disease or Syndrome 415 84
C0850666 Infection caused by Helicobacter pylori disease Infections Disease or Syndrome Abnormality of the digestive system; Abnormality of the immune system 337 56
C1333064 Classical Hodgkin's Lymphoma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 285 20
C0333307 Superficial ulcer disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 242 10
C0276447 Rhinovirus infection disease Infections Disease or Syndrome 202 4
C3840565 Autoimmune thyroid disease (AITD) disease Disease or Syndrome 133 54
C0043144 Wheezing phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the respiratory system 132 54
C1332922 Cervical Squamous Intraepithelial Neoplasia disease Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 109 3
C0035439 Rheumatic Heart Disease disease Infections; Cardiovascular Diseases Disease or Syndrome 102 33
C1867743 Premature coronary artery atherosclerosis phenotype Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 87 43
C0149725 Lower respiratory tract infection group Infections; Respiratory Tract Diseases Disease or Syndrome Abnormality of the immune system; Abnormality of the respiratory system 63 7