Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C3540839 Neonatal Drug Withdrawal disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 0 3
C4733577 adult chronic myelogenous leukemia disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 1 3
C0423461 Cilioretinal artery (disorder) disease Eye Diseases; Nervous System Diseases; Cardiovascular Diseases Congenital Abnormality 2 1
C4024948 Anterior encephalocele disease Congenital Abnormality Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system 3 5
C0221165 Diplegia disease Disease or Syndrome 4 2
C1856058 HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY disease Disease or Syndrome genetic disease; disease of metabolism 5 78
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
C0268615 5,10-Methylenetetrahydrofolate reductase deficiency disease Nutritional and Metabolic Diseases Disease or Syndrome 6 6
C3647902 Vasculogenic erectile dysfunction disease Male Urogenital Diseases; Mental Disorders Disease or Syndrome 6 3
C0342342 Idiopathic Hypoparathyroidism disease Endocrine System Diseases Disease or Syndrome 12 5
C0162529 Colitis, Ischemic disease Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 15 3
C3714941 OTOFACIOCERVICAL SYNDROME 1 disease Disease or Syndrome 16 10
C3266076 Orofacial cleft disease Congenital Abnormality 18 2
C3826044 Lymphoblastic leukemia in children disease Neoplastic Process 19 2
C2584409 Prothrombin G20210A mutation disease Hemic and Lymphatic Diseases Disease or Syndrome 20 9
C3495426 Homocysteinemia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 21 6
C1260403 prothrombin gene mutation phenotype Hemic and Lymphatic Diseases Disease or Syndrome 23 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
C1861537 OROFACIAL CLEFT 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome genetic disease; syndrome; physical disorder 28 11
C0042847 Vitamin B 12 Deficiency disease Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 29 11
C0264657 Renal sclerosis with hypertension disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 29 9
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
C0746731 Acute myocardial ischemia disease Cardiovascular Diseases Disease or Syndrome 32 2
C0151945 Thrombosis of cerebral veins disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues 35 11
C0600433 Activated Protein C Resistance disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues 41 30