Source: BEFREE

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
C0006826 Malignant Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 8577 1441
C1306459 Primary malignant neoplasm group Neoplasms Neoplastic Process disease of cellular proliferation 8221 1374
C0025202 melanoma disease Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 2890 352
C0011860 Diabetes Mellitus, Non-Insulin-Dependent disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 2694 1598
C0279702 Conventional (Clear Cell) Renal Cell Carcinoma disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 2274 203
C0023418 leukemia disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 1984 138
C0020538 Hypertensive disease group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1973 871
C0007134 Renal Cell Carcinoma disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 1958 182
C1332977 Childhood Leukemia disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1740 140
C0019196 Hepatitis C disease Digestive System Diseases; Infections Disease or Syndrome disease by infectious agent 1736 316
C0027051 Myocardial Infarction disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1582 547
C0007222 Cardiovascular Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1551 382
C0030193 Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Constitutional symptom 1480 182
C0033860 Psoriasis disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of the immune system 1105 238
C0948008 Ischemic stroke disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the cardiovascular system 1104 586
C0000768 Congenital Abnormality group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1091 73
C0002736 Amyotrophic Lateral Sclerosis disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 1069 411
C0008626 Congenital chromosomal disease group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 756 47
C0024530 Malaria disease Infections Disease or Syndrome disease by infectious agent 658 90
C0024115 Lung diseases group Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 630 50
C0007959 Charcot-Marie-Tooth Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 196 95
C0030312 Pancytopenia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 182 6
C0271183 Severe myopia disease Eye Diseases Disease or Syndrome Abnormality of the eye 142 100
C1275685 Avellino corneal dystrophy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 114 14