Source: GWASDB

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0014859 Esophageal Neoplasms group Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 56 107
C1527304 Allergic Reaction phenotype Immune System Diseases Pathologic Function disease of anatomical entity 55 819
C0177804 Bone Mineral Density Test phenotype Diagnostic Procedure 54 314
C1956346 Coronary Artery Disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 53 107
C0032181 Platelet Count measurement phenotype Laboratory Procedure 53 65
C0337438 Glucose measurement phenotype Laboratory Procedure 52 48
C0495706 elevated blood glucose level phenotype Finding 52 48
C0202177 Phospholipid measurement phenotype Laboratory Procedure 51 271
C0004364 Autoimmune Diseases group Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 49 104
C0021053 Immune System Diseases group Immune System Diseases Disease or Syndrome disease of anatomical entity 49 104
C0005586 Bipolar Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 48 238
C0019163 Hepatitis B disease Digestive System Diseases; Infections Disease or Syndrome disease by infectious agent 47 265
C0007570 Celiac Disease disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 45 109
C0033860 Psoriasis disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of the immune system 45 85
C0009402 Colorectal Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 44 89
C0152013 Adenocarcinoma of lung (disorder) disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 43 80
C0231921 Pulmonary function phenotype Organ or Tissue Function 41 259
C3160731 Pulmonary function (finding) phenotype Finding 41 259
C0524587 Mean Corpuscular Volume (result) phenotype Laboratory or Test Result 41 87
C0200665 Platelet mean volume determination (procedure) phenotype Laboratory Procedure 41 77
C0200695 Fetal hemoglobin determination phenotype Laboratory Procedure 40 219
C0004352 Autistic Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 40 110
C0036421 Systemic Scleroderma disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 40 78
C1263846 Attention deficit hyperactivity disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 40 53
C1168443 Pseudocholinesterase Measurement phenotype Laboratory Procedure 39 568