Source: GWASDB

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
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 21 63
C0202230 Thyroid stimulating hormone measurement phenotype Laboratory Procedure 21 33
C1842247 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 21 32
C0947622 Cholecystolithiasis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity 21 31
C0162534 Prion Diseases group Infections; Nervous System Diseases Disease or Syndrome disease of anatomical entity 21 28
C0036202 Sarcoidosis disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 20 697
C0034951 Refractive Errors group Eye Diseases Disease or Syndrome disease of anatomical entity 20 63
C0020538 Hypertensive disease group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 20 40
C0018498 Hair Color phenotype Organism Attribute 19 38
C0205682 Waist-Hip Ratio phenotype Organism Attribute 19 33
C1720824 Sudden Cardiac Arrest phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 19 32
C1305849 Diastolic blood pressure measurement phenotype Diagnostic Procedure 19 30
C0027819 Neuroblastoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 18 157
C0001948 Alcohol consumption phenotype Behavior and Behavior Mechanisms Individual Behavior 18 127
C0017638 Glioma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 18 55
C0020445 Hypercholesterolemia, Familial disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 18 28
C0017612 Glaucoma, Open-Angle disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 17 137
C0149678 Epstein-Barr Virus Infections group Infections Disease or Syndrome 17 54
C0004943 Behcet Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 17 40
C0346647 Malignant neoplasm of pancreas disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 17 36
C0566602 Primary sclerosing cholangitis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity 17 35
C0018810 heart rate phenotype Clinical Attribute 17 32
C0001175 Acquired Immunodeficiency Syndrome group Infections; Immune System Diseases Disease or Syndrome disease by infectious agent 17 28
C1336708 Testicular Germ Cell Tumor disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 17 26
C4083212 Alopecia, Male Pattern disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 16 651