Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1168401 Squamous cell carcinoma of the head and neck disease Neoplasms Neoplastic Process disease of cellular proliferation 27 179
C1336078 Papillary renal cell carcinoma, sporadic disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 11 30
C1458155 Mammary Neoplasms group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the breast 34 314
C1842036 GIANT PIGMENTED HAIRY NEVUS disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity Abnormality of the integument 2 5
C1968782 MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease 1 4
C2239176 Liver carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 21 142
C3463824 MYELODYSPLASTIC SYNDROME group Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of blood and blood-forming tissues 11 19
C3854181 Nevus sebaceous disease Neoplasms Neoplastic Process disease of anatomical entity; syndrome Abnormality of the integument 2 4
C4016398 COSTELLO SYNDROME, SEVERE disease Finding 1 1
C4225426 THYROID CANCER, NONMEDULLARY, 2 disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 6 12
C4552097 Nevus Sebaceus of Jadassohn disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome syndrome Abnormality of the integument 3 7