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
C0270715 Degenerative Diseases, Central Nervous System group Nervous System Diseases Disease or Syndrome disease of anatomical entity 39 0
C0524851 Neurodegenerative Disorders group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 39 0
C0751733 Degenerative Diseases, Spinal Cord group Nervous System Diseases Disease or Syndrome 39 0
C0037769 West Syndrome disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 24 6
C3150731 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 disease Disease or Syndrome disease of anatomical entity 1 6