CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0027651 Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 10153 1571
C0002395 Alzheimer's Disease disease Nervous System Diseases; Mental Disorders Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 3131 968
C0036341 Schizophrenia disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 2217 1332
C0020538 Hypertensive disease group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1973 871
C0030567 Parkinson Disease disease Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1952 751
C0030193 Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Constitutional symptom 1480 182
C0344315 Depressed mood phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health 1459 269
C0011581 Depressive disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 1430 290
C0011570 Mental Depression disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health 1416 271
C0014544 Epilepsy disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 1124 250
C1510586 Autism Spectrum Disorders disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 1018 256
C0003469 Anxiety Disorders group Mental Disorders Mental or Behavioral Dysfunction disease of mental health 807 144
C0003467 Anxiety disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 752 118
C0033975 Psychotic Disorders group Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 438 114
C0349204 Nonorganic psychosis disease Mental Disorders Mental or Behavioral Dysfunction 360 98
C0524528 Pervasive Development Disorder group Mental Disorders Mental or Behavioral Dysfunction 328 49
C0013146 Drug abuse group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction disease of mental health 300 38
C0150055 Chronic pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Constitutional symptom 201 17
C0520680 Sleep Apnea, Central disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome disease of mental health Abnormality of the nervous system; Abnormality of the respiratory system 85 10
C0751039 Cockayne Syndrome, Type I disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease 78 12
C3160814 Cannabis use disease Mental or Behavioral Dysfunction 62 14
C0236788 Bipolar II disorder disease Mental Disorders Mental or Behavioral Dysfunction 20 12
C4694057 Taq1A POLYMORPHISM disease Disease or Syndrome 9 14