Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0000768 Congenital Abnormality group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73
C0001175 Acquired Immunodeficiency Syndrome group Infections; Immune System Diseases Disease or Syndrome disease by infectious agent 243 42
C0001418 Adenocarcinoma group Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2235 168
C0001807 Aggressive behavior phenotype Behavior and Behavior Mechanisms Individual Behavior Abnormality of the nervous system 176 22
C0001889 Akinetic Mutism disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 1 0
C0002170 Alopecia disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of head or neck 491 375
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
C0002726 Amyloidosis disease Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis 694 93
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
C0002895 Anemia, Sickle Cell disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 434 138
C0003123 Anorexia disease Pathological Conditions, Signs and Symptoms Disease or Syndrome Abnormality of the digestive system 242 10
C0003467 Anxiety disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 1048 287
C0003537 Aphasia disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 86 3
C0003578 Apnea phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom Abnormality of the respiratory system 262 11
C0003635 Apraxias group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 71 9
C0003850 Arteriosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 2006 267
C0003862 Arthralgia phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom Constitutional symptom 248 27
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 2096 1536
C0004114 Astrocytoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 985 59
C0004134 Ataxia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 868 68
C0004138 Ataxias, Hereditary disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 35 3
C0004153 Atherosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 2044 281
C0005129 Bernard-Soulier Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 46 23
C0005586 Bipolar Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 1183 839
C0006111 Brain Diseases group Nervous System Diseases Disease or Syndrome disease of anatomical entity 345 10