Source: ALL

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 6941 3417
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
C0025149 Medulloblastoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 862 115
C0027708 Nephroblastoma disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 586 125
C0027672 Neoplastic Syndromes, Hereditary group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 88 6387
C0677776 Hereditary Breast and Ovarian Cancer Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases Neoplastic Process genetic disease; syndrome 74 2117
C1842408 increased risk of pancreatic cancer phenotype Neoplasms Finding Abnormality of the digestive system; Neoplasm 5 6
C2676676 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 disease Finding 3 2277
C2675520 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 disease Finding 2 2633
C1838457 FANCONI ANEMIA, COMPLEMENTATION GROUP D1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 37
C2751641 GLIOMA SUSCEPTIBILITY 3 disease Finding 1 22
C3150546 PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 disease Finding 1 21