CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0376358 Malignant neoplasm of prostate disease Neoplasms; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system 4502 1082
C0600139 Prostate carcinoma disease Neoplasms; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 4388 1168
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 2969 688
C0699790 Colon Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2832 275
C0033860 Psoriasis disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of the immune system 1308 705
C0022661 Kidney Failure, Chronic disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity 827 425
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
C0030305 Pancreatitis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 502 80
C0149521 Pancreatitis, Chronic disease Digestive System Diseases Disease or Syndrome Abnormality of the digestive system; Abnormality of the immune system 379 56
C0035078 Kidney Failure disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 378 36
C0020557 Hypertriglyceridemia phenotype Nutritional and Metabolic Diseases Disease or Syndrome 340 169
C0392525 Nephrolithiasis disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 242 99
C0022650 Kidney Calculi disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity 190 71
C0020437 Hypercalcemia disease Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis 157 9
C0042870 Vitamin D Deficiency disease Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 153 37
C0025267 Multiple Endocrine Neoplasia Type 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process genetic disease 145 156
C0221002 Hyperparathyroidism, Primary disease Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 115 39
C0020502 Hyperparathyroidism disease Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 111 14
C0020598 Hypocalcemia phenotype Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 94 13
C0687150 Parathyroid Gland Adenocarcinoma disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 74 22
C0451641 Urolithiasis disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 72 33
C0020503 Hyperparathyroidism, Secondary disease Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 68 4
C0543800 Idiopathic hypercalciuria disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 20 1