Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0280474 Childhood Glioblastoma disease Neoplasms Neoplastic Process 2527 98
C1140680 Malignant neoplasm of ovary disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 2520 246
C2939419 Secondary Neoplasm group Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2492 85
C0028754 Obesity disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Growth abnormality 2459 900
C0003873 Rheumatoid Arthritis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 2395 676
C0919267 ovarian neoplasm disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 2357 229
C0029463 Osteosarcoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the skeletal system 2255 155
C0585442 Osteosarcoma of bone disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2247 151
C1332986 Childhood Osteosarcoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2208 151
C0699885 Carcinoma of bladder disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 2089 290
C0005684 Malignant neoplasm of urinary bladder disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2063 289
C0005695 Bladder Neoplasm disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 2055 278
C0023418 leukemia disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 1984 138
C0020538 Hypertensive disease group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1973 871
C1332977 Childhood Leukemia disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1740 140
C0019196 Hepatitis C disease Digestive System Diseases; Infections Disease or Syndrome disease by infectious agent 1736 316
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 1731 714
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 1686 635
C0004364 Autoimmune Diseases group Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 1679 213
C0026764 Multiple Myeloma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of blood and blood-forming tissues 1674 118
C3539878 Triple Negative Breast Neoplasms disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1673 96
C4722518 Triple-Negative Breast Carcinoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1598 96
C0030193 Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Constitutional symptom 1480 182
C0524851 Neurodegenerative Disorders group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 1480 85
C0042769 Virus Diseases group Infections Disease or Syndrome disease by infectious agent 1469 42