Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0001418 Adenocarcinoma group Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2235 168
C0001430 Adenoma group Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1183 103
C0001815 Primary Myelofibrosis disease Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 282 29
C0002736 Amyotrophic Lateral Sclerosis disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 1114 485
C0002871 Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 847 94
C0003862 Arthralgia phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom Constitutional symptom 248 27
C0003864 Arthritis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 1072 69
C0004763 Barrett Esophagus disease Digestive System Diseases; Neoplasms Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Neoplasm 478 60
C0005745 Blepharoptosis disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 595 57
C0006142 Malignant neoplasm of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 6941 3417
C0006826 Malignant Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 8621 1641
C0007097 Carcinoma group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 2462 103
C0007102 Malignant tumor of colon disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 2969 688
C0007103 Malignant neoplasm of endometrium disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1235 197
C0007131 Non-Small Cell Lung Carcinoma disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 3926 712
C0007137 Squamous cell carcinoma disease Neoplasms Neoplastic Process disease of cellular proliferation Abnormality of the integument; Neoplasm 2507 257
C0007766 Intracranial Aneurysm disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the cardiovascular system 311 150
C0007789 Cerebral Palsy disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 241 69
C0007847 Malignant tumor of cervix disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1718 245
C0008487 Chordoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the skeletal system 140 3
C0008495 Chorioamnionitis phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome disease of anatomical entity 132 2
C0009080 Clubbed Fingers disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 88 1
C0009319 Colitis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 1135 15
C0009324 Ulcerative Colitis disease Digestive System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 1458 827
C0009375 Colonic Neoplasms group Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 947 45