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
C0002395 Alzheimer's Disease disease Nervous System Diseases; Mental Disorders Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 101 952
C0276496 Familial Alzheimer Disease (FAD) disease Nervous System Diseases; Mental Disorders Disease or Syndrome disease of anatomical entity 100 0
C0750901 Alzheimer Disease, Early Onset disease Nervous System Diseases; Mental Disorders Disease or Syndrome 99 2
C0011265 Presenile dementia disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 99 0
C0494463 Alzheimer Disease, Late Onset disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 99 0
C0546126 Acute Confusional Senile Dementia disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 99 0
C0750900 Alzheimer's Disease, Focal Onset disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 99 0
C1321872 Stage IV Skin Melanoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 7 24
C3714534 dowling-degos disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 5 0
C0406811 Reticulate acropigmentation of Kitamura disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 4 5
C4552092 Dowling-Degos disease 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 4 3
C3810041 ALZHEIMER DISEASE 18 disease Disease or Syndrome disease of anatomical entity 1 2