CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1619716 Cystatin C measurement phenotype Laboratory Procedure 2 8
C0449439 Carrier status phenotype Finding 2 6
C1272321 Autoantibody measurement phenotype Laboratory Procedure 3 5
C0241910 Autoimmune Chronic Hepatitis disease Digestive System Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity 5 3
C1332355 Autoimmune Hepatitis with Centrilobular Necrosis disease Disease or Syndrome disease of anatomical entity 5 3
C0201910 Beta-2-microglobulin measurement phenotype Laboratory Procedure 6 7
C1739108 Latent Autoimmune Diabetes in Adults disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 6 6
C0014170 Endometrial Neoplasms group Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation 12 17
C0021053 Immune System Diseases group Immune System Diseases Disease or Syndrome disease of anatomical entity 12 17
C0002171 Alopecia Areata disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 16 29
C0346163 Endometrioid carcinoma ovary disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 19 31
C0017168 Gastroesophageal reflux disease disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 19 29
C2931171 Juvenile pauciarticular chronic arthritis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 24 31
C3890205 Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity 24 31
C3898105 Oligoarticular Juvenile Idiopathic Arthritis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 24 31
C1305849 Diastolic blood pressure measurement phenotype Diagnostic Procedure 26 53
C0087031 Juvenile-Onset Still Disease disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 27 41
C1384600 Systemic onset juvenile chronic arthritis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 27 41
C1858558 Rheumatoid Arthritis, Systemic Juvenile disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity 27 41
C0476089 Endometrial Carcinoma disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 29 54
C0036202 Sarcoidosis disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 30 37
C0027051 Myocardial Infarction disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 34 58
C1335177 Ovarian Serous Adenocarcinoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 34 58
C0017612 Glaucoma, Open-Angle disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 40 87
C2607914 Allergic rhinitis (disorder) disease Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of head or neck 46 72