Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1269955 Tumor Cell Invasion phenotype Neoplastic Process 6626 169
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
C0178874 Tumor Progression phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72
C4722085 Malignant neoplasm of colon and/or rectum disease Neoplastic Process 3669 502
C0280474 Childhood Glioblastoma disease Neoplasms Neoplastic Process 2527 98
C2939419 Secondary Neoplasm group Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2492 85
C4086165 Childhood Neuroblastoma disease Neoplasms Neoplastic Process 2420 231
C0338656 Impaired cognition disease Mental Disorders Mental or Behavioral Dysfunction Abnormality of the nervous system 1630 348
C0030193 Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Constitutional symptom 1554 196
C0153676 Secondary malignant neoplasm of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 1370 20
C0000768 Congenital Abnormality group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73
C1611743 Familial (FPAH) disease Disease or Syndrome 1075 276
C0015934 Fetal Growth Retardation phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome Growth abnormality 1037 21
C0015967 Fever phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of metabolism/homeostasis 1021 66
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
C0023893 Liver Cirrhosis, Experimental disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0
C0004134 Ataxia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 868 68
C0029453 Osteopenia disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 845 61
C1519670 Tumor Angiogenesis phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 822 5
C1963184 Nystagmus, CTCAE 3.0 phenotype Finding 779 0
C4554036 Nystagmus, CTCAE 5.0 phenotype Finding 779 0