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
C0027627 Neoplasm Metastasis phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6345 327
C0596263 Carcinogenesis phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6241 355
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
C0027819 Neuroblastoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 2469 234
C0028754 Obesity disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Growth abnormality 2459 900
C4086165 Childhood Neuroblastoma disease Neoplasms Neoplastic Process 2420 231
C0700095 Central neuroblastoma disease Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2419 231
C0007097 Carcinoma group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 2375 90
C0026764 Multiple Myeloma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of blood and blood-forming tissues 1674 118
C0026769 Multiple Sclerosis disease Immune System Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 1599 448
C0476089 Endometrial Carcinoma disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 1555 233
C0030193 Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Constitutional symptom 1480 182
C3463824 MYELODYSPLASTIC SYNDROME group Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of blood and blood-forming tissues 975 79
C3266262 Multiple Chronic Conditions disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 929 42
C0035335 Retinoblastoma disease Neoplasms; Eye Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the eye 844 39
C0085669 Acute leukemia disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 602 50
C0002871 Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 573 79
C0520679 Sleep Apnea, Obstructive disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome disease of mental health Abnormality of the nervous system; Abnormality of the respiratory system 420 63
C0032584 polyps phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 379 18
C0027022 Myeloproliferative disease group Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 355 35
C0007194 Hypertrophic Cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 353 213
C1292778 Chronic myeloproliferative disorder disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 351 44
C0032463 Polycythemia Vera disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 283 37
C0001815 Primary Myelofibrosis disease Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 263 25