Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C2936380 Neointima disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 6 0
C0268353 Cutis laxa, x-linked disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality genetic disease; disease of metabolism 1 10
C0494475 Tonic - clonic seizures disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 104 21
C0751495 Seizures, Focal phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 104 9
C0270844 Tonic Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0
C4316903 Absence Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 102 5
C0022333 Jacksonian Seizure disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome disease of anatomical entity 101 0
C0149958 Complex partial seizures disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 101 0
C0234533 Generalized seizures disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 101 6
C0234535 Clonic Seizures disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 101 0
C0270824 Visual seizure disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome disease of anatomical entity 101 0
C0270846 Epileptic drop attack disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 101 5
C0422853 Olfactory seizure phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 101 0
C0422855 Vertiginous seizure phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 101 0
C0751110 Single Seizure disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 101 0
C0751123 Atonic Absence Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 101 0
C3495874 Nonepileptic Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 101 0
C4317109 Epileptic Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 101 0
C4505436 Generalized Absence Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 101 0
C0598589 Inherited neuropathies disease Nervous System Diseases Disease or Syndrome 40 0
C0002871 Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 34 16
C0019189 Hepatitis, Chronic disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 22 0
C0149519 Chronic Persistent Hepatitis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity 22 0
C0520463 Chronic active hepatitis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 22 0
C0524611 Cryptogenic Chronic Hepatitis disease Digestive System Diseases Disease or Syndrome 22 0