Source: GWASCAT

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0410702 Adolescent idiopathic scoliosis disease Musculoskeletal Diseases Anatomical Abnormality 578 1158
C1837461 SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 disease Finding 578 1158
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 353 844
C0678222 Breast Carcinoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the breast 321 675
C0024117 Chronic Obstructive Airway Disease disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 203 529
C0003873 Rheumatoid Arthritis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 179 399
C0004238 Atrial Fibrillation disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 159 362
C0022661 Kidney Failure, Chronic disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity 107 236
C0010068 Coronary heart disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 86 169
C0028754 Obesity disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Growth abnormality 67 119
C0011847 Diabetes disease Endocrine System Diseases Disease or Syndrome disease of metabolism 63 104
C0524620 Metabolic Syndrome X disease Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; syndrome 55 124
C0029410 Osteoarthritis of hip disease Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 49 81
C2607914 Allergic rhinitis (disorder) disease Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of head or neck 46 72
C0001973 Alcoholic Intoxication, Chronic disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 45 85
C0018801 Heart failure disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 38 82
C0409959 Osteoarthritis, Knee disease Musculoskeletal Diseases Disease or Syndrome Abnormality of limbs; Abnormality of the skeletal system 38 59
C0151779 Cutaneous Melanoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the integument; Neoplasm 32 42
C0153535 Malignant melanoma of skin of upper limb disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 32 42
C0153536 Malignant melanoma of skin of lower limb disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 32 42
C0025202 melanoma disease Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 25 35
C0451641 Urolithiasis disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 12 17
C0023530 Leukopenia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of blood and blood-forming tissues 3 6
C1305855 Body mass index phenotype Clinical Attribute 1014 2689
C0871470 Systolic Pressure phenotype Clinical Attribute 843 1931