Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4721610 Carcinoma, Ovarian Epithelial 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 2841 327
C0699790 Colon Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2832 275
C0686619 Secondary malignant neoplasm of lymph node disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2825 188
C0028754 Obesity disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Growth abnormality 2821 1111
C0011849 Diabetes Mellitus group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 2803 824
C1458155 Mammary Neoplasms group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the breast 2780 385
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 2723 2387
C0235974 Pancreatic carcinoma disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2689 322
C0346647 Malignant neoplasm of pancreas disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 2667 277
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 2563 315
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 2542 757
C0027819 Neuroblastoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 2509 386
C0007137 Squamous cell carcinoma disease Neoplasms Neoplastic Process disease of cellular proliferation Abnormality of the integument; Neoplasm 2507 257
C0152013 Adenocarcinoma of lung (disorder) disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 2438 563
C4086165 Childhood Neuroblastoma disease Neoplasms Neoplastic Process 2420 231
C0700095 Central neuroblastoma disease Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2419 231
C0011847 Diabetes disease Endocrine System Diseases Disease or Syndrome disease of metabolism 2359 710
C0279702 Conventional (Clear Cell) Renal Cell Carcinoma 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 2346 222
C0020538 Hypertensive disease group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 2322 1085
C0001418 Adenocarcinoma group Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2235 168
C3714756 Intellectual Disability group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 2165 159
C0036572 Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 2152 553
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 2130 281
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 2113 316
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 2111 144