CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0002170 Alopecia disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of head or neck 19 341
C0003873 Rheumatoid Arthritis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 174 1789
C0008312 Primary biliary cirrhosis disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 47 609
C0008370 Cholestasis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 110 4
C0009402 Colorectal Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 702 856
C0009404 Colorectal Neoplasms group Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 277 586
C0013182 Drug Allergy group Immune System Diseases; Chemically-Induced Disorders Pathologic Function 35 0
C0013221 Drug toxicity group Chemically-Induced Disorders Injury or Poisoning 84 0
C0017178 Gastrointestinal Diseases group Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 12 8
C0018799 Heart Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 46 1
C0019193 Hepatitis, Toxic disease Digestive System Diseases; Chemically-Induced Disorders Injury or Poisoning 404 0
C0020433 Hyperbilirubinemia disease Pathological Conditions, Signs and Symptoms Disease or Syndrome genetic disease; disease of metabolism 4 0
C0022333 Jacksonian Seizure disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome disease of anatomical entity 101 0
C0022350 Jaundice, Chronic Idiopathic disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 1 10
C0023892 Biliary cirrhosis disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 42 36
C0023893 Liver Cirrhosis, Experimental disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 774 0
C0027765 nervous system disorder group Nervous System Diseases Disease or Syndrome disease of anatomical entity 53 0
C0036572 Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 218 417
C0038220 Status Epilepticus disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 68 6
C0041755 Adverse reaction to drug group Chemically-Induced Disorders Pathologic Function 84 0
C0086873 Pseudopelade disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 19 0
C0149958 Complex partial seizures disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 101 0
C0162311 Androgenetic Alopecia disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 15 104
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