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
C0152013 Adenocarcinoma of lung (disorder) disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 37 211
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
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
C0023467 Leukemia, Myelocytic, Acute disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 27 141
C0279680 Transitional cell carcinoma of bladder disease 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 26 141
C0017636 Glioblastoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 22 115
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
C0025149 Medulloblastoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 18 80
C0007112 Adenocarcinoma of prostate disease Neoplasms; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 16 96
C0026764 Multiple Myeloma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of blood and blood-forming tissues 15 76
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
C0010606 Adenoid Cystic Carcinoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 11 27
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
C0677865 Brain Stem Glioma disease Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 10 45
C0004114 Astrocytoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 5 11
C3553958 METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA disease Disease or Syndrome 1 1
C4016231 GLIOBLASTOMA MULTIFORME, SOMATIC disease Finding 1 1