Source: GWASCAT

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0007222 Cardiovascular Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 225 326
C0021390 Inflammatory Bowel Diseases group Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 178 354
C0038454 Cerebrovascular accident group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the cardiovascular system 75 138
C0006826 Malignant Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 71 199
C0011849 Diabetes Mellitus group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 63 104
C0236664 Alcohol-Related Disorders group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction disease of mental health 45 85
C0236970 Alcohol-Induced Disorders group Chemically-Induced Disorders Disease or Syndrome disease of mental health 45 85
C1305855 Body mass index phenotype Clinical Attribute 1014 2689
C0871470 Systolic Pressure phenotype Clinical Attribute 843 1931
C1261502 Finding of Mean Corpuscular Hemoglobin phenotype Finding 633 1159
C0023508 White Blood Cell Count procedure phenotype Laboratory Procedure 623 1003
C0427460 Red cell distribution width determination phenotype Laboratory Procedure 593 988
C1304746 RDW - Red blood cell distribution width result phenotype Laboratory or Test Result 593 988
C0205682 Waist-Hip Ratio phenotype Organism Attribute 562 1128
C0428883 Diastolic blood pressure phenotype Clinical Attribute 507 1037
C0037369 Smoking phenotype Behavior and Behavior Mechanisms Individual Behavior disease of mental health 391 765
C0392885 High density lipoprotein measurement phenotype Laboratory Procedure 353 951
C0202236 Triglycerides measurement phenotype Laboratory Procedure 324 837
C1445957 Serum total cholesterol measurement phenotype Laboratory Procedure 308 766
C1314691 Age at menarche phenotype Behavior and Behavior Mechanisms Finding 265 548
C0202239 Uric acid measurement (procedure) phenotype Laboratory Procedure 254 550
C0001948 Alcohol consumption phenotype Behavior and Behavior Mechanisms Individual Behavior 202 423
C4049938 Physical Activity Measurement phenotype Laboratory Procedure 160 355
C0424678 Lean body mass phenotype Clinical Attribute 143 208
C0018935 Hematocrit procedure phenotype Laboratory Procedure 138 216