Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1269955 Tumor Cell Invasion phenotype Neoplastic Process 6626 169
C0596263 Carcinogenesis phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355
C0686619 Secondary malignant neoplasm of lymph node disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2825 188
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 1825 553
C3539878 Triple Negative Breast Neoplasms disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1674 99
C4722518 Triple-Negative Breast Carcinoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1598 96
C0349588 Short stature phenotype Finding Growth abnormality 1127 292
C1611743 Familial (FPAH) disease Disease or Syndrome 1075 276
C0015934 Fetal Growth Retardation phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome Growth abnormality 1037 21
C2919142 Short Stature, CTCAE phenotype Finding 1010 0
C3266262 Multiple Chronic Conditions disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 929 42
C1963184 Nystagmus, CTCAE 3.0 phenotype Finding 779 0
C4554036 Nystagmus, CTCAE 5.0 phenotype Finding 779 0
C0278996 Malignant Head and Neck Neoplasm disease Neoplasms Neoplastic Process Neoplasm 767 118
C0033377 Ptosis disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 607 12
C0020534 Orbital separation excessive phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of the eye 590 77
C0025990 Micrognathism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 586 53
C0278488 Carcinoma breast stage IV disease Neoplastic Process 573 14
C4704874 Mammary Carcinoma, Human disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 545 0
C0029925 Ovarian Carcinoma disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 539 19
C0151889 Hyperreflexia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 539 19
C1257931 Mammary Neoplasms, Human disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 527 0
C0240635 Byzanthine arch palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck 497 70
C0007124 Noninfiltrating Intraductal Carcinoma disease Neoplasms Neoplastic Process Neoplasm; Abnormality of the breast 486 13
C0853879 Invasive carcinoma of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 473 21