CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0027627 Neoplasm Metastasis phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327
C0596263 Carcinogenesis phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355
C1306460 Primary malignant neoplasm of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981
C4722085 Malignant neoplasm of colon and/or rectum disease Neoplastic Process 3669 502
C0686619 Secondary malignant neoplasm of lymph node disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2825 188
C4086165 Childhood Neuroblastoma disease Neoplasms Neoplastic Process 2420 231
C0220630 Adult Liver Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process 1377 72
C0424295 Hyperactive behavior phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction Abnormality of the nervous system 1263 112
C0011881 Diabetic Nephropathy disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1189 238
C2711227 Steatohepatitis disease Digestive System Diseases Disease or Syndrome Abnormality of the digestive system 1143 75
C0000768 Congenital Abnormality group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73
C0015934 Fetal Growth Retardation phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome Growth abnormality 1037 21
C0494165 Secondary malignant neoplasm of liver disease Digestive System Diseases; Neoplasms Neoplastic Process 951 34
C0233514 Abnormal behavior phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 910 121
C0278996 Malignant Head and Neck Neoplasm disease Neoplasms Neoplastic Process Neoplasm 767 118
C0153381 Malignant neoplasm of mouth group Neoplasms; Stomatognathic Diseases Neoplastic Process 756 184
C4529962 Fatty Liver Disease disease Disease or Syndrome 741 81
C0220641 Lip and Oral Cavity Carcinoma disease Neoplasms; Stomatognathic Diseases Neoplastic Process 734 172
C0011265 Presenile dementia disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 718 159
C4521042 Complete Trisomy 21 Syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77
C2316810 Chronic kidney disease stage 5 disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome Abnormality of the genitourinary system 666 194
C0242339 Dyslipidemias group Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 471 184
C1302401 Adenoma of large intestine disease Digestive System Diseases; Neoplasms Neoplastic Process 452 213
C3811653 Experimental Organism Basal Cell Carcinoma phenotype Neoplasms Neoplastic Process 437 63
C1270972 Mild cognitive disorder disease Mental Disorders Mental or Behavioral Dysfunction 430 96