CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0006142 Malignant neoplasm of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1074 1390
C0023893 Liver Cirrhosis, Experimental disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 774 0
C0678222 Breast Carcinoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the breast 538 763
C1458155 Mammary Neoplasms group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the breast 527 316
C1257931 Mammary Neoplasms, Human disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 525 0
C4704874 Mammary Carcinoma, Human disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 525 0
C0014175 Endometriosis disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 161 80
C0269102 Endometrioma disease Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity 161 0
C0007102 Malignant tumor of colon disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 159 416
C0009375 Colonic Neoplasms group Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 152 6
C0239946 Fibrosis, Liver disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome Abnormality of the digestive system 105 1
C0023890 Liver Cirrhosis disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 103 20
C0027051 Myocardial Infarction disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 95 162
C0022658 Kidney Diseases group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 88 9
C0034069 Pulmonary Fibrosis disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 85 0
C4721507 Alveolitis, Fibrosing disease Respiratory Tract Diseases Disease or Syndrome 83 0
C0023895 Liver diseases group Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 72 0
C0086565 Liver Dysfunction phenotype Digestive System Diseases Finding Abnormality of the digestive system 72 0
C4707243 Familial thoracic aortic aneurysm and aortic dissection disease Disease or Syndrome disease of anatomical entity 53 442
C0017668 Focal glomerulosclerosis disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 36 8
C0005398 Cholestasis, Extrahepatic disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 32 0
C0022116 Ischemia phenotype Pathological Conditions, Signs and Symptoms Pathologic Function disease of anatomical entity 28 0
C0086432 Hyalinosis, Segmental Glomerular disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 28 0
C0041956 Ureteral obstruction phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 24 0
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