Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0151779 Cutaneous Melanoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the integument; Neoplasm 38 153
C0009404 Colorectal Neoplasms group Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 31 216
C0153574 Malignant Uterine Corpus Neoplasm disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation 26 152
C0027651 Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 26 98
C0017636 Glioblastoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 22 115
C0006118 Brain Neoplasms group Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 13 118
C0280630 Uterine Carcinosarcoma disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation 12 80
C0878684 SHORT syndrome disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome genetic disease 1 12
C4014934 IMMUNODEFICIENCY 36 disease Disease or Syndrome 1 7
C3554689 AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE disease Disease or Syndrome disease of anatomical entity 1 5