Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0002395 Alzheimer's Disease disease Nervous System Diseases; Mental Disorders Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 3397 1843
C0003873 Rheumatoid Arthritis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 2723 2387
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 2096 1536
C0005398 Cholestasis, Extrahepatic disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 87 0
C0006142 Malignant neoplasm of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 6941 3417
C0006826 Malignant Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 8621 1641
C0007103 Malignant neoplasm of endometrium disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1235 197
C0007113 Rectal Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 472 112
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 3926 712
C0007847 Malignant tumor of cervix disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1718 245
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 478 667
C0008370 Cholestasis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 420 15
C0009241 Cognition Disorders group Mental Disorders Mental or Behavioral Dysfunction 607 47
C0009375 Colonic Neoplasms group Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 947 45
C0009402 Colorectal Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 5473 1962
C0009404 Colorectal Neoplasms group Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 1296 609
C0011847 Diabetes disease Endocrine System Diseases Disease or Syndrome disease of metabolism 2359 710
C0011849 Diabetes Mellitus group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 2803 824
C0013146 Drug abuse group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction disease of mental health 405 39
C0013170 Drug habituation phenotype Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 196 19
C0013221 Drug toxicity group Chemically-Induced Disorders Injury or Poisoning 86 0
C0013222 Drug Use Disorders group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 121 0
C0014175 Endometriosis disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 1188 274
C0015624 Fanconi Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome genetic disease; disease of anatomical entity 26 4
C0015625 Fanconi Anemia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 394 173