CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0023893 Liver Cirrhosis, Experimental disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 774 0
C0009402 Colorectal Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 702 856
C0027627 Neoplasm Metastasis phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 217 0
C0205696 Anaplastic carcinoma disease Neoplasms Neoplastic Process 163 0
C0205697 Carcinoma, Spindle-Cell disease Neoplasms Neoplastic Process disease of cellular proliferation 163 0
C0205698 Undifferentiated carcinoma disease Neoplasms Neoplastic Process 163 0
C0205699 Carcinomatosis phenotype Neoplasms Neoplastic Process 163 0
C0376634 Craniofacial Abnormalities group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 156 0
C0279626 Squamous cell carcinoma of esophagus disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 95 11
C0546837 Malignant neoplasm of esophagus disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 78 48
C4707243 Familial thoracic aortic aneurysm and aortic dissection disease Disease or Syndrome disease of anatomical entity 53 442
C3179349 Gastrointestinal Stromal Sarcoma disease Digestive System Diseases; Neoplasms Neoplastic Process 47 0
C0278701 Gastric Adenocarcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 45 220
C0011881 Diabetic Nephropathy disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 44 33
C0017667 Nodular glomerulosclerosis disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 41 0
C0153633 Malignant neoplasm of brain disease Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 38 4
C0496899 Benign neoplasm of brain, unspecified disease Neoplasms; Nervous System Diseases Neoplastic Process 33 0
C0750974 Brain Tumor, Primary disease Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 33 0
C0750977 Recurrent Brain Neoplasm disease Neoplasms; Nervous System Diseases Neoplastic Process 33 0
C0750979 Primary malignant neoplasm of brain disease Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 33 0
C1527390 Neoplasms, Intracranial group Neoplasms; Nervous System Diseases Neoplastic Process 33 0
C1333990 Hereditary Nonpolyposis Colorectal Cancer disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process genetic disease 29 1268
C1112155 Hereditary non-polyposis colorectal cancer syndrome disease Congenital Abnormality genetic disease 27 0
C0009405 Hereditary Nonpolyposis Colorectal Neoplasms group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process genetic disease 26 875
C0015393 Eye Abnormalities group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 17 0