Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0027651 Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 10153 1571
C0006826 Malignant Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 8577 1441
C1306459 Primary malignant neoplasm group Neoplasms Neoplastic Process disease of cellular proliferation 8221 1374
C1269955 Tumor Cell Invasion phenotype Neoplastic Process 6626 169
C0678222 Breast Carcinoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the breast 6500 2145
C0006142 Malignant neoplasm of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 6481 2154
C0027627 Neoplasm Metastasis phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6345 327
C0596263 Carcinogenesis phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6241 355
C0009402 Colorectal Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 5011 1186
C4722085 Malignant neoplasm of colon and/or rectum disease Neoplastic Process 3669 502
C0002395 Alzheimer's Disease disease Nervous System Diseases; Mental Disorders Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 3131 968
C0025202 melanoma disease Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 2890 352
C0036341 Schizophrenia disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 2217 1332
C0238463 Papillary thyroid carcinoma disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 1293 193
C0549473 Thyroid carcinoma disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 1152 116
C0040136 Thyroid Neoplasm disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 1081 114
C1608408 Malignant transformation phenotype Neoplastic Process 1027 20
C0007115 Malignant neoplasm of thyroid disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 949 103
C0007194 Hypertrophic Cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 353 213
C0494463 Alzheimer Disease, Late Onset disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 338 243
C0010709 Cyst disease Pathological Conditions, Signs and Symptoms; Neoplasms Disease or Syndrome 212 6
C0007133 Carcinoma, Papillary disease Neoplasms Neoplastic Process disease of cellular proliferation 205 9
C0023976 Long QT Syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 96 147
C1720983 Channelopathies disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 94 8
C1142166 Brugada Syndrome (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 62 97