Source: UNIPROT

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0023467 Leukemia, Myelocytic, Acute disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of blood and blood-forming tissues; Abnormality of the immune system; Neoplasm 11 7
C1335302 Pancreatic Ductal Adenocarcinoma disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 11 5
C0149925 Small cell carcinoma of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the respiratory system; Neoplasm 11 0
C0346153 Breast Cancer, Familial disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 10 111
C1861906 Breast Cancer, Familial Male disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 10 111
C0699791 Stomach Carcinoma disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 10 15
C0011860 Diabetes Mellitus, Non-Insulin-Dependent disease Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 10 10
C0684249 Carcinoma of lung disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 10 10
C1852091 INSULIN RESISTANCE, SUSCEPTIBILITY TO phenotype Finding disease of metabolism 10 10
C4017238 DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST phenotype Finding disease of metabolism 10 10
C0023480 Leukemia, Myelomonocytic, Chronic disease Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of blood and blood-forming tissues; Abnormality of the immune system; Neoplasm 9 26
C0917796 Optic Atrophy, Hereditary, Leber disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 9 22
C0699790 Colon Carcinoma disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 8 70
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 8 8
C0031511 Pheochromocytoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Abnormality of the nervous system; Neoplasm 7 39
C3149711 PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO phenotype Finding disease of cellular proliferation 7 39
C0376358 Malignant neoplasm of prostate disease Male Urogenital Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system 7 32
C1321872 Stage IV Skin Melanoma disease Neoplastic Process 7 23
C0677886 Epithelial ovarian cancer disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 7 18
C0242379 Malignant neoplasm of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 7 6
C1168401 Squamous cell carcinoma of the head and neck disease Neoplasms Neoplastic Process disease of cellular proliferation 7 2
C0039685 Tetralogy of Fallot disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 6 14
C0080178 Spina Bifida disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality disease of anatomical entity; physical disorder Abnormality of the nervous system 6 13
C3150911 GASTRIC CANCER, INTESTINAL disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 6 13
C3891448 NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO disease Finding 6 13