CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0001973 Alcoholic Intoxication, Chronic disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 268 231
C0002152 Alloxan Diabetes disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 108 0
C0003486 Aortic Aneurysm disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 7 2
C0003493 Aortic Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 6 0
C0003496 Aortic Rupture disease Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 5 0
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
C0004114 Astrocytoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 25 11
C0005398 Cholestasis, Extrahepatic disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 32 0
C0005586 Bipolar Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 477 552
C0005684 Malignant neoplasm of urinary bladder disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 141 41
C0005695 Bladder Neoplasm disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 140 3
C0005967 Bone neoplasms group Neoplasms; Musculoskeletal Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the skeletal system 8 0
C0006114 Cerebral Edema phenotype Nervous System Diseases Pathologic Function disease of anatomical entity Abnormality of metabolism/homeostasis; Abnormality of the nervous system 8 0
C0006142 Malignant neoplasm of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1074 1390
C0006663 Calcinosis phenotype Nutritional and Metabolic Diseases Pathologic Function disease of metabolism Abnormality of the musculature 42 0
C0007102 Malignant tumor of colon disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 159 416
C0007114 Malignant neoplasm of skin disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the integument; Neoplasm 59 0
C0007131 Non-Small Cell Lung Carcinoma disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 156 132
C0007137 Squamous cell carcinoma disease Neoplasms Neoplastic Process disease of cellular proliferation Abnormality of the integument; Neoplasm 124 66
C0007621 Neoplastic Cell Transformation phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 139 0
C0007786 Brain Ischemia disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the cardiovascular system 60 0
C0009324 Ulcerative Colitis disease Digestive System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 63 475
C0009375 Colonic Neoplasms group Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 152 6
C0011853 Diabetes Mellitus, Experimental disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 108 0
C0011882 Diabetic Neuropathies group Nervous System Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity 14 0