Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0006142 Malignant neoplasm of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1074 1390
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 538 763
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 527 316
C1257931 Mammary Neoplasms, Human disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 525 0
C4704874 Mammary Carcinoma, Human disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 525 0
C0013421 Dystonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 86 61
C3860213 Autoinflammatory disorder disease Disease or Syndrome 35 0
C0393591 AICARDI-GOUTIERES SYNDROME disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome genetic disease 8 4
C3489725 Pseudo-TORCH syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome genetic disease 7 3
C0796126 AICARDI-GOUTIERES SYNDROME 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome genetic disease 6 26
C3489724 Aicardi-Goutieres Syndrome 2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome genetic disease 6 19
C0795996 STRIATONIGRAL DEGENERATION, INFANTILE (disorder) disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 3 1
C3539013 AICARDI-GOUTIERES SYNDROME 6 disease Disease or Syndrome genetic disease 1 13
C0406775 Symmetrical dyschromatosis of extremities disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Congenital Abnormality disease of anatomical entity 1 11