Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0242379 Malignant neoplasm of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 4173 1142
C0684249 Carcinoma of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 4081 1204
C1306460 Primary malignant neoplasm of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981
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 3134 2672
C0024141 Lupus Erythematosus, Systemic disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 1883 1172
C0026769 Multiple Sclerosis disease Immune System Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 1800 1022
C0019196 Hepatitis C disease Digestive System Diseases; Infections Disease or Syndrome disease by infectious agent 1768 347
C0042769 Virus Diseases group Infections Disease or Syndrome disease by infectious agent 1471 42
C0041296 Tuberculosis disease Infections Disease or Syndrome 1256 328
C0036421 Systemic Scleroderma disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 979 287
C0021400 Influenza disease Infections; Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity; disease by infectious agent 858 17
C0596887 mathematical ability phenotype Mental Process 854 2127
C0409974 Lupus Erythematosus disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity 558 44
C0024138 Lupus Erythematosus, Discoid disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of the immune system 552 46
C0024131 Lupus Vulgaris disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 526 44
C0375023 Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site disease Disease or Syndrome 467 14
C0201657 C-reactive protein measurement phenotype Laboratory Procedure 135 624
C0014061 Tick-Borne Encephalitis disease Infections; Nervous System Diseases Disease or Syndrome disease by infectious agent 59 9
C1278049 Serum gamma-glutamyl transferase measurement phenotype Laboratory Procedure 54 108
C1168443 Pseudocholinesterase Measurement phenotype Laboratory Procedure 39 568