Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0423461 Cilioretinal artery (disorder) disease Eye Diseases; Nervous System Diseases; Cardiovascular Diseases Congenital Abnormality 2 1
C1302773 Low Grade Squamous Intraepithelial Neoplasia disease Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 94 2
C0085183 Neoplasms, Second Primary phenotype Neoplasms Neoplastic Process 44 2
C0282666 Very Low Birth Weight phenotype Sign or Symptom 42 2
C0746731 Acute myocardial ischemia disease Cardiovascular Diseases Disease or Syndrome 32 2
C3826044 Lymphoblastic leukemia in children disease Neoplastic Process 19 2
C3266076 Orofacial cleft disease Congenital Abnormality 18 2
C0221165 Diplegia disease Disease or Syndrome 4 2
C0042341 Varicocele disease Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 99 3
C0014869 Peptic Esophagitis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity 85 3
C0349459 Cervical intraepithelial neoplasia grade 2 disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 77 3
C0752121 Spinocerebellar Ataxia Type 2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 76 3
C0677659 Gastro-esophageal reflux disease with esophagitis disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 71 3
C0340293 Anterior myocardial infarction disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 47 3
C0162529 Colitis, Ischemic disease Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 15 3
C3647902 Vasculogenic erectile dysfunction disease Male Urogenital Diseases; Mental Disorders Disease or Syndrome 6 3
C4733577 adult chronic myelogenous leukemia disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 1 3
C3540839 Neonatal Drug Withdrawal disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 0 3
C0024620 Primary Malignant Liver Neoplasm disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 60 4
C1856061 Methylenetetrahydrofolate reductase deficiency disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 5 4
C0432474 Klinefelter's syndrome - male with more than two X chromosomes disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 90 5
C0221166 Paraparesis phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 31 5
C0221347 Acrocyanosis phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome Abnormality of the integument; Abnormality of the respiratory system 25 5
C1260403 prothrombin gene mutation phenotype Hemic and Lymphatic Diseases Disease or Syndrome 23 5
C0342342 Idiopathic Hypoparathyroidism disease Endocrine System Diseases Disease or Syndrome 12 5