Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0000768 Congenital Abnormality group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73
C0002871 Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 847 94
C0002888 Anemia, Megaloblastic disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 26 2
C0003864 Arthritis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 1072 69
C0003868 Arthritis, Gouty disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 206 2356
C0003873 Rheumatoid Arthritis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 2723 2387
C0004135 Ataxia Telangiectasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 384 698
C0004364 Autoimmune Diseases group Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 1758 428
C0005956 Bone Marrow Diseases group Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 84 3
C0006142 Malignant neoplasm of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 6941 3417
C0006826 Malignant Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 8621 1641
C0007102 Malignant tumor of colon disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 2969 688
C0007131 Non-Small Cell Lung Carcinoma disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 3926 712
C0007193 Cardiomyopathy, Dilated group Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 512 509
C0007789 Cerebral Palsy disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 241 69
C0008497 Choriocarcinoma disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of prenatal development or birth; Abnormality of the genitourinary system; Neoplasm 431 2
C0008626 Congenital chromosomal disease group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47
C0009241 Cognition Disorders group Mental Disorders Mental or Behavioral Dysfunction 607 47
C0009319 Colitis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 1135 15
C0009375 Colonic Neoplasms group Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 947 45
C0009782 Connective Tissue Diseases group Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 188 24
C0011168 Deglutition Disorders group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the digestive system; Abnormality of the nervous system; Abnormality of head or neck 389 50
C0011303 Demyelinating Diseases group Nervous System Diseases Disease or Syndrome disease of anatomical entity 156 5
C0011633 Dermatomyositis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 235 34
C0011853 Diabetes Mellitus, Experimental disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 522 0