Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0000737 Abdominal Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the digestive system; Constitutional symptom 302 18
C0001418 Adenocarcinoma group Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2235 168
C0002874 Aplastic Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 238 30
C0003123 Anorexia disease Pathological Conditions, Signs and Symptoms Disease or Syndrome Abnormality of the digestive system 242 10
C0003466 Anus, Imperforate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality disease of anatomical entity; physical disorder Abnormality of the digestive system 139 9
C0003857 Congenital arteriovenous malformation disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality Abnormality of the cardiovascular system 163 23
C0004106 Astigmatism disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 148 45
C0004509 Azoospermia disease Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 254 70
C0004604 Back Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Constitutional symptom; Abnormality of the skeletal system 110 10
C0004903 Beckwith-Wiedemann Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome genetic disease; syndrome 107 84
C0005398 Cholestasis, Extrahepatic disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 87 0
C0005586 Bipolar Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 1183 839
C0005745 Blepharoptosis disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 595 57
C0006142 Malignant neoplasm of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 6941 3417
C0006145 Breast Diseases group Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 73 6
C0006826 Malignant Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 8621 1641
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 2969 688
C0007104 Female Breast Carcinoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 71 15
C0007112 Adenocarcinoma of prostate disease Neoplasms; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 342 108
C0007124 Noninfiltrating Intraductal Carcinoma disease Neoplasms Neoplastic Process Neoplasm; Abnormality of the breast 486 13
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
C0007194 Hypertrophic Cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 560 635
C0008297 Choanal Atresia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Congenital Abnormality disease of anatomical entity Abnormality of head or neck 104 7
C0008925 Cleft Palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome; physical disorder 611 158
C0009402 Colorectal Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 5473 1962