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
C0030567 Parkinson Disease disease Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2078 990
C0026769 Multiple Sclerosis disease Immune System Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 1800 1022
C0041296 Tuberculosis disease Infections Disease or Syndrome 1256 328
C2919142 Short Stature, CTCAE phenotype Finding 1010 0
C0025517 Metabolic Diseases group Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism 945 50
C0021400 Influenza disease Infections; Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity; disease by infectious agent 858 17
C0022661 Kidney Failure, Chronic disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity 827 425
C0027796 Neuralgia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 767 16
C0856169 Endothelial dysfunction phenotype Disease or Syndrome 716 25
C3714636 Pneumonitis disease Infections; Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity 697 13
C0042373 Vascular Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 688 40
C1261502 Finding of Mean Corpuscular Hemoglobin phenotype Finding 653 1206
C0018799 Heart Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 537 45
C2936719 Mechanical Allodynia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 408 4
C0677932 Progressive Neoplastic Disease phenotype Neoplastic Process 384 40
C3539781 Progressive cGVHD disease Disease or Syndrome 384 40
C0007787 Transient Ischemic Attack disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 344 16
C0947751 Vascular inflammations phenotype Cardiovascular Diseases Disease or Syndrome 305 3
C0234251 Inflammatory pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 266 1
C3160718 PARKINSON DISEASE, LATE-ONSET disease Disease or Syndrome disease of anatomical entity 247 76
C0024523 Malabsorption Syndrome group Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 239 0
C0007820 Cerebrovascular Disorders group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 233 56
C4551472 Hypertrophic obstructive cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 233 90
C0017921 Glycogen storage disease type II disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 194 269