Source: GWASCAT

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C2985280 Blood Protein Measurement phenotype Laboratory Procedure 1156 2575
C1305855 Body mass index phenotype Clinical Attribute 1014 2689
C0871470 Systolic Pressure phenotype Clinical Attribute 843 1931
C0200638 Eosinophil count procedure phenotype Laboratory Procedure 607 1133
C1304746 RDW - Red blood cell distribution width result phenotype Laboratory or Test Result 593 988
C0427460 Red cell distribution width determination phenotype Laboratory Procedure 593 988
C0428883 Diastolic blood pressure phenotype Clinical Attribute 507 1037
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
C0202117 Low density lipoprotein cholesterol measurement phenotype Laboratory Procedure 295 731
C1956346 Coronary Artery Disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 252 551
C0206161 Reticulocyte count (procedure) phenotype Laboratory Procedure 234 474
C0007222 Cardiovascular Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 225 326
C0200665 Platelet mean volume determination (procedure) phenotype Laboratory Procedure 213 339
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
C0018935 Hematocrit procedure phenotype Laboratory Procedure 138 216
C3828530 Platelet Component Distribution Width Measurement phenotype Laboratory Procedure 134 200
C0010068 Coronary heart disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 86 169
C4528257 Corpuscular Hemoglobin Concentration Mean phenotype Laboratory or Test Result 86 165
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
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