Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1519670 Tumor Angiogenesis phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 822 5
C0027796 Neuralgia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 767 16
C0278996 Malignant Head and Neck Neoplasm disease Neoplasms Neoplastic Process Neoplasm 767 118
C0015672 Fatigue phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Constitutional symptom 760 67
C0521158 Recurrent tumor phenotype Neoplastic Process 735 33
C0856169 Endothelial dysfunction phenotype Disease or Syndrome 716 25
C2316810 Chronic kidney disease stage 5 disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome Abnormality of the genitourinary system 666 194
C4048329 Immunosuppression disease Disease or Syndrome 632 9
C0175754 Agenesis of corpus callosum disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 615 45
C0424605 Developmental delay (disorder) phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68
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
C0003811 Cardiac Arrhythmia phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 559 111
C1535926 Neurodevelopmental Disorders group Mental Disorders Mental or Behavioral Dysfunction 535 14
C0278883 Metastatic melanoma disease Neoplasms Neoplastic Process 504 42
C3714514 Infection group Infections Pathologic Function 491 0
C0020443 Hypercholesterolemia disease Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 489 123
C0242339 Dyslipidemias group Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 471 184
C0021368 Inflammation phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 467 0
C0024232 Lymphatic Metastasis disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 463 10
C0020429 Hyperalgesia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 451 4
C3811653 Experimental Organism Basal Cell Carcinoma phenotype Neoplasms Neoplastic Process 437 63
C0524910 Hepatitis C, Chronic disease Digestive System Diseases; Infections Disease or Syndrome 430 80
C0542476 Forgetful phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom Abnormality of the nervous system 429 18
C4552766 Miscarriage disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 426 56
C0006287 Bronchopulmonary Dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 423 112