CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1445957 Serum total cholesterol measurement phenotype Laboratory Procedure 278 652
C0202117 Low density lipoprotein cholesterol measurement phenotype Laboratory Procedure 269 555
C0428474 Serum LDL cholesterol measurement phenotype Laboratory Procedure 269 555
C0026769 Multiple Sclerosis disease Immune System Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 201 488
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 110 263
C0008312 Primary biliary cirrhosis disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 72 561
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
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
C1269683 Major Depressive Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health 33 171
C4021107 Non-obstructive azoospermia disease Male Urogenital Diseases Disease or Syndrome Abnormality of the genitourinary system 26 48
C0004943 Behcet Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 17 40