Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4024948 Anterior encephalocele disease Congenital Abnormality Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system 3 5
C0220810 Congenital defects group Congenital Abnormality 126 6
C0268074 Indian childhood cirrhosis disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 67 6
C3495426 Homocysteinemia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 21 6
C0268615 5,10-Methylenetetrahydrofolate reductase deficiency disease Nutritional and Metabolic Diseases Disease or Syndrome 6 6
C0751967 Multiple Sclerosis, Relapsing-Remitting disease Immune System Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 206 7
C0012236 DiGeorge Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease 111 7
C0278484 Malignant neoplasm of colon stage IV disease Digestive System Diseases; Neoplasms Neoplastic Process 108 7
C0747845 early pregnancy phenotype Disease or Syndrome 273 8
C0684275 Hemophilia, NOS disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 82 8
C0016412 Folic Acid Deficiency disease Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 70 8
C0221505 Lesion of brain group Disease or Syndrome 188 9
C0917805 Transient Cerebral Ischemia disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the cardiovascular system 98 9
C0264657 Renal sclerosis with hypertension disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 29 9
C2584409 Prothrombin G20210A mutation disease Hemic and Lymphatic Diseases Disease or Syndrome 20 9
C3714941 OTOFACIOCERVICAL SYNDROME 1 disease Disease or Syndrome 16 10
C0751955 Brain Infarction disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 114 11
C0151945 Thrombosis of cerebral veins disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues 35 11
C0042847 Vitamin B 12 Deficiency disease Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 29 11
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
C0011882 Diabetic Neuropathies group Nervous System Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity 144 12
C1861305 TARSAL-CARPAL COALITION SYNDROME disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome genetic disease 261 13
C0795690 Congenital omphalocele disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality disease of anatomical entity; physical disorder Abnormality of the digestive system; Abnormality of connective tissue 85 13
C1334177 Infiltrating Cervical Carcinoma disease Neoplastic Process 76 13
C0026918 Mycobacterium Infections group Infections Disease or Syndrome 183 14