Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0027627 Neoplasm Metastasis phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327
C0596263 Carcinogenesis phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355
C1306460 Primary malignant neoplasm of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981
C2939419 Secondary Neoplasm group Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2492 85
C4086165 Childhood Neuroblastoma disease Neoplasms Neoplastic Process 2420 231
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 1825 553
C0036690 Septicemia disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome Abnormality of the immune system 1285 141
C0041296 Tuberculosis disease Infections Disease or Syndrome 1256 328
C0349588 Short stature phenotype Finding Growth abnormality 1127 292
C0000768 Congenital Abnormality group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73
C2919142 Short Stature, CTCAE phenotype Finding 1010 0
C0598766 Leukemogenesis disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 996 25
C0026827 Muscle hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 967 579
C1858120 Generalized hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 955 164
C3266262 Multiple Chronic Conditions disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 929 42
C0233514 Abnormal behavior phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 910 121
C0022660 Kidney Failure, Acute disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome Abnormality of the genitourinary system 826 32
C0008626 Congenital chromosomal disease group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47
C4048329 Immunosuppression disease Disease or Syndrome 632 9
C0740391 Middle Cerebral Artery Occlusion disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 626 0
C0009241 Cognition Disorders group Mental Disorders Mental or Behavioral Dysfunction 607 47
C0026838 Muscle Spasticity phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom Abnormality of the nervous system; Abnormality of the musculature 580 48
C0151889 Hyperreflexia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 539 19
C0860207 Drug-Induced Liver Disease phenotype Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 537 29
C1535926 Neurodevelopmental Disorders group Mental Disorders Mental or Behavioral Dysfunction 535 14