Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1445957 Serum total cholesterol measurement phenotype Laboratory Procedure 0 1243
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 221 1232
C1261502 Finding of Mean Corpuscular Hemoglobin phenotype Finding 13 1206
C0016529 Forced expiratory volume function phenotype Organ or Tissue Function 0 1169
C0410702 Adolescent idiopathic scoliosis disease Musculoskeletal Diseases Anatomical Abnormality 0 1162
C1837461 SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 disease Finding 1 1158
C0200638 Eosinophil count procedure phenotype Laboratory Procedure 0 1144
C0202117 Low density lipoprotein cholesterol measurement phenotype Laboratory Procedure 0 1142
C0205682 Waist-Hip Ratio phenotype Organism Attribute 0 1138
C3548479 response to bronchodilator phenotype Organism Function 0 1106
C1269683 Major Depressive Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health 243 1103
C0428883 Diastolic blood pressure phenotype Clinical Attribute 0 1037
C0017654 Glomerular Filtration Rate phenotype Diagnostic Procedure 0 1033
C1527304 Allergic Reaction phenotype Immune System Diseases Pathologic Function disease of anatomical entity 63 1019
C0024796 Marfan Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 11 997
C0427460 Red cell distribution width determination phenotype Laboratory Procedure 0 988
C1304746 RDW - Red blood cell distribution width result phenotype Laboratory or Test Result 0 988
C0002395 Alzheimer's Disease disease Nervous System Diseases; Mental Disorders Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 101 952
C0004096 Asthma disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the respiratory system 80 891
C0009405 Hereditary Nonpolyposis Colorectal Neoplasms group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process genetic disease 26 875
C0009402 Colorectal Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 702 856
C0027831 Neurofibromatosis 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process genetic disease 2 799
C0010346 Crohn Disease disease Digestive System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 50 792
C0037369 Smoking phenotype Behavior and Behavior Mechanisms Individual Behavior disease of mental health 0 765
C0678222 Breast Carcinoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the breast 538 763