CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0020538 Hypertensive disease group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 190 233
C0600427 Cocaine Dependence disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction disease of mental health 139 5
C0009171 Cocaine Abuse disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction disease of mental health 127 0
C0236736 Cocaine-Related Disorders group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction disease of mental health 117 0
C0236733 Amphetamine-Related Disorders group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction disease of mental health 75 3
C0236804 Amphetamine Addiction disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 75 0
C0236807 Amphetamine Abuse disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 75 0
C0038587 Substance Withdrawal Syndrome disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 58 0
C0086189 Drug Withdrawal Symptoms phenotype Chemically-Induced Disorders; Mental Disorders Sign or Symptom 58 0
C0087169 Withdrawal Symptoms phenotype Chemically-Induced Disorders; Mental Disorders Sign or Symptom 58 0
C0221032 Familial generalized lipodystrophy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome Abnormality of connective tissue 6 3
C0005398 Cholestasis, Extrahepatic disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 32 0
C2239176 Liver carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 507 203
C0014175 Endometriosis disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 161 80
C0269102 Endometrioma disease Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity 161 0
C0003469 Anxiety Disorders group Mental Disorders Mental or Behavioral Dysfunction disease of mental health 44 20
C0376280 Anxiety States, Neurotic disease Mental Disorders Mental or Behavioral Dysfunction 44 0
C1279420 Anxiety neurosis (finding) disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health 44 0
C0016063 Osteitis Fibrosa Disseminata disease Musculoskeletal Diseases Disease or Syndrome genetic disease Abnormality of the skeletal system 2 0
C4704884 Fibrocystic Dysplasia of Bone disease Musculoskeletal Diseases Disease or Syndrome 2 0
C4704885 Fibrocartilaginous Dysplasia of Bone disease Musculoskeletal Diseases Disease or Syndrome 2 0
C4721610 Carcinoma, Ovarian Epithelial disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 30 6
C0242379 Malignant neoplasm of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 266 173
C0024121 Lung Neoplasms group Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 265 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