Source: GWASDB

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0202117 Low density lipoprotein cholesterol measurement phenotype Laboratory Procedure 269 555
C0428474 Serum LDL cholesterol measurement phenotype Laboratory Procedure 269 555
C0010068 Coronary heart disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 166 388
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 125 534
C2931822 Nasopharyngeal carcinoma disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 89 168
C0006142 Malignant neoplasm of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 82 223
C0027051 Myocardial Infarction disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 76 94
C1956346 Coronary Artery Disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 53 107
C1168443 Pseudocholinesterase Measurement phenotype Laboratory Procedure 39 568
C1269683 Major Depressive Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health 33 171
C1842247 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 21 32
C0017638 Glioma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 18 55
C0017612 Glaucoma, Open-Angle disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 17 137
C0085136 Central Nervous System Neoplasms group Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 12 18
C0014175 Endometriosis disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 8 23
C4721806 Carcinoma, Basal Cell disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the integument; Neoplasm 8 14
C1611184 Calcification of coronary artery phenotype Nutritional and Metabolic Diseases; Cardiovascular Diseases Pathologic Function Abnormality of the skeletal system; Abnormality of the cardiovascular system 6 129
C0017601 Glaucoma disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 6 28
C0007766 Intracranial Aneurysm disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the cardiovascular system 6 19
C1328319 Ankle brachial pressure index (observable entity) phenotype Clinical Attribute 5 33
C0162871 Aortic Aneurysm, Abdominal disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 5 5