Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4722085 Malignant neoplasm of colon and/or rectum disease Neoplastic Process 3669 502
C3840565 Autoimmune thyroid disease (AITD) disease Disease or Syndrome 133 54
C0040021 Thromboangiitis Obliterans disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 127 16
C0031069 Familial Mediterranean Fever disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome genetic disease; disease of metabolism; disease of anatomical entity 133 82
C0220668 Congenital contractural arachnodactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality disease of anatomical entity 559 48
C0391826 Lhermitte-Duclos disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process genetic disease; disease of anatomical entity Abnormality of the nervous system 41 83
C0020179 Huntington Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome disease of anatomical entity 978 115
C0011615 Dermatitis, Atopic disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of the immune system 751 232
C0021390 Inflammatory Bowel Diseases group Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 1577 605
C0010346 Crohn Disease disease Digestive System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 1382 1147
C0566602 Primary sclerosing cholangitis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity 264 58
C0009402 Colorectal Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 5473 1962
C0024623 Malignant neoplasm of stomach disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 3806 615
C0699791 Stomach Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 3720 652
C0677607 Hashimoto Disease disease Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system; Abnormality of the immune system 335 131
C0018213 Graves Disease disease Eye Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 585 352
C0392525 Nephrolithiasis disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 242 99
C0002874 Aplastic Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 238 30
C0004364 Autoimmune Diseases group Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 1758 428
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
C0023343 Leprosy disease Infections Disease or Syndrome disease of anatomical entity; disease by infectious agent 190 120
C0041327 Tuberculosis, Pulmonary disease Infections; Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity; disease by infectious agent 358 171
C0036341 Schizophrenia disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 2872 2897
C0029408 Degenerative polyarthritis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 1827 247