Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0023449 Acute lymphocytic leukemia disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 1293 222
C0279628 Adenocarcinoma Of Esophagus disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 468 81
C0751606 Adult Acute Lymphocytic Leukemia disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 860 154
C0001948 Alcohol consumption phenotype Behavior and Behavior Mechanisms Individual Behavior 210 535
C0002395 Alzheimer's Disease disease Nervous System Diseases; Mental Disorders Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 3397 1843
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
C0038013 Ankylosing spondylitis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 710 609
C0233523 Antisocial behavior phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 51 17
C0003868 Arthritis, Gouty disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 206 2356
C0003872 Arthritis, Psoriatic disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome syndrome 450 89
C1879828 Benign Teratoma disease Neoplasms Neoplastic Process disease of cellular proliferation 10 0
C0678222 Breast Carcinoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the breast 6776 2793
C0687720 Central Diabetes Insipidus disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the endocrine system 105 21
C0023452 Childhood Acute Lymphoblastic Leukemia disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1096 261
C1332977 Childhood Leukemia disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1740 140
C0343386 Clostridium difficile infection disease Infections Disease or Syndrome 57 10
C0686377 CNS metastases phenotype Neoplasms; Nervous System Diseases Neoplastic Process 102 14
C0009402 Colorectal Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 5473 1962
C1261470 Congenital meningocele disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality physical disorder 33 0
C0010068 Coronary heart disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 1576 1178
C0201976 Creatinine measurement, serum (procedure) phenotype Laboratory Procedure 124 243
C0029408 Degenerative polyarthritis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 1827 247
C0344315 Depressed mood phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health 1461 269
C0011581 Depressive disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 1719 297
C0011649 Dermoid Cyst disease Neoplasms Neoplastic Process disease of cellular proliferation Abnormality of the integument 33 0