Source: GWASDB

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4749367 Mesial temporal lobe epilepsy with hippocampal sclerosis disease Nervous System Diseases Disease or Syndrome 2 2
C4722217 E-selectin Measurement phenotype Laboratory Procedure 0 2
C4721806 Carcinoma, Basal Cell disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the integument; Neoplasm 8 14
C4553199 Left Ventricular Systolic Dysfunction, CTCAE 5.0 phenotype Finding 0 1
C4529962 Fatty Liver Disease disease Disease or Syndrome 3 43
C4528257 Corpuscular Hemoglobin Concentration Mean phenotype Laboratory or Test Result 353 4267
C4315130 Hippocampal atrophy phenotype Finding Abnormality of the nervous system 9 12
C4277682 Chemical and Drug Induced Liver Injury disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 5 8
C4083212 Alopecia, Male Pattern disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 16 651
C4082974 Dupuytren's Disease disease Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 8 12
C4048328 cervical cancer disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 6 17
C4021107 Non-obstructive azoospermia disease Male Urogenital Diseases Disease or Syndrome Abnormality of the genitourinary system 26 48
C3898105 Oligoarticular Juvenile Idiopathic Arthritis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 7 12
C3850153 Ovarian Reserve phenotype Organ or Tissue Function 2 4
C3662483 Allergic sensitization disease Disease or Syndrome 6 10
C3554279 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2 disease Disease or Syndrome; Congenital Abnormality 1 2
C3547188 response to fenofibrate phenotype Cell Function 4 5
C3547187 response to metformin phenotype Cell Function 3 14
C3546688 response to temozolomide phenotype Cell Function 1 1
C3541318 Soluble Transferrin Receptor Measurement phenotype Laboratory Procedure 2 2
C3495801 Granulomatosis with polyangiitis disease Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 2 6
C3495559 Juvenile arthritis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity 9 22
C3178782 Aortic Stiffness phenotype Disease or Syndrome Abnormality of the cardiovascular system 2 8
C3178777 Bisphosphonate-Associated Osteonecrosis of the Jaw phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Stomatognathic Diseases Pathologic Function 1 3
C3160731 Pulmonary function (finding) phenotype Finding 41 259