CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
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 282 1613
C0027404 Narcolepsy disease Nervous System Diseases; Mental Disorders Disease or Syndrome disease of mental health Abnormality of the nervous system 202 436
C0026769 Multiple Sclerosis disease Immune System Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 201 488
C0011854 Diabetes Mellitus, Insulin-Dependent disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 143 477
C0024141 Lupus Erythematosus, Systemic disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 109 253
C0010346 Crohn Disease disease Digestive System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 104 332
C0042900 Vitiligo disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 61 121
C1527304 Allergic Reaction phenotype Immune System Diseases Pathologic Function disease of anatomical entity 55 819
C0152013 Adenocarcinoma of lung (disorder) disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 43 80
C0026896 Myasthenia Gravis disease Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 35 56
C0206062 Lung Diseases, Interstitial group Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 31 111
C4021107 Non-obstructive azoospermia disease Male Urogenital Diseases Disease or Syndrome Abnormality of the genitourinary system 26 48
C0036202 Sarcoidosis disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 20 697
C0205682 Waist-Hip Ratio phenotype Organism Attribute 19 33
C0149678 Epstein-Barr Virus Infections group Infections Disease or Syndrome 17 54
C0338451 Frontotemporal dementia disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome genetic disease; disease of anatomical entity; disease of mental health Abnormality of the nervous system 4 4
C0409959 Osteoarthritis, Knee disease Musculoskeletal Diseases Disease or Syndrome Abnormality of limbs; Abnormality of the skeletal system 2 1
C2210597 Anti-cyclic citrullinated peptide antibody phenotype Laboratory Procedure 2 1