Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C3658248 Hypertriglyceridemic Waist phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Sign or Symptom 11 0
C0023794 Lipoidosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 23 0
C3899403 Decreased Concentration phenotype Sign or Symptom 27 1
C0039292 Tangier Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 29 8
C0032302 Mycoplasma pneumonia disease Infections; Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity 43 2
C0034050 Pulmonary Alveolar Proteinosis disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 50 3
C2613439 Extramedullary Hematopoiesis (disorder) disease Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues 52 1
C1504336 Polypoidal choroidal vasculopathy disease Disease or Syndrome Abnormality of the eye 56 67
C0438696 Suicidal disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 93 29
C0154251 Lipid Metabolism Disorders group Nutritional and Metabolic Diseases Disease or Syndrome 94 10
C2700438 MAJOR AFFECTIVE DISORDER 7 disease Mental Disorders Mental or Behavioral Dysfunction 103 8
C2700439 MAJOR AFFECTIVE DISORDER 8 disease Mental Disorders Mental or Behavioral Dysfunction 103 8
C2700440 MAJOR AFFECTIVE DISORDER 9 disease Mental Disorders Mental or Behavioral Dysfunction 103 8
C0027404 Narcolepsy disease Nervous System Diseases; Mental Disorders Disease or Syndrome disease of mental health Abnormality of the nervous system 109 9
C0023518 Leukocytosis phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of the immune system; Abnormality of blood and blood-forming tissues 121 2
C0271084 Exudative age-related macular degeneration disease Eye Diseases Disease or Syndrome disease of anatomical entity 123 45
C1970943 MAJOR AFFECTIVE DISORDER 4 disease Mental Disorders Mental or Behavioral Dysfunction 137 34
C1970945 MAJOR AFFECTIVE DISORDER 6 disease Mental Disorders Mental or Behavioral Dysfunction 137 34
C1852197 MAJOR AFFECTIVE DISORDER 1 disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health 138 34
C1839839 MAJOR AFFECTIVE DISORDER 2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders Mental or Behavioral Dysfunction disease of mental health 158 34
C0026936 Mycoplasma Infections group Infections Disease or Syndrome 184 1
C0017921 Glycogen storage disease type II disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 191 80
C0456909 Blindness phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 194 16
C0745103 Hyperlipoproteinemia Type IIa disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 198 139
C0346957 Disseminated Malignant Neoplasm phenotype Neoplasms Neoplastic Process 232 4