Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C2350242 Osteoarthritis, Spine disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 8 2
C0340291 Silent myocardial ischemia disease Cardiovascular Diseases Disease or Syndrome 9 4
C3888044 Nephrogenic Systemic Fibrosis disease Skin and Connective Tissue Diseases Disease or Syndrome 12 3
C0342783 Deficiency of butyryl-CoA dehydrogenase disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 21 47
C0013884 Filarial Elephantiases disease Infections; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity; disease by infectious agent 38 10
C0014742 Erythema Multiforme disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 38 2
C0342637 Hypocalciuric hypercalcemia, familial, type 1 disease Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 46 58
C4025886 Severe periodontitis disease Stomatognathic Diseases Disease or Syndrome Abnormality of the immune system; Abnormality of head or neck 54 12
C0263912 Rotator cuff syndrome disease Wounds and Injuries Disease or Syndrome 54 8
C0263746 Osteoarthritis of the hand disease Musculoskeletal Diseases Disease or Syndrome 61 21
C1868938 End stage cardiac failure disease Disease or Syndrome 76 2
C0013295 Duodenal Ulcer disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 102 33
C0206677 Adenomatous Polyps disease Neoplasms Neoplastic Process 120 20
C0043119 Werner Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease 130 71
C0043144 Wheezing phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the respiratory system 132 54
C0038358 Gastric ulcer disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 136 7
C4551649 Congenital Dysplasia Of The Hip disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of the skeletal system 147 27
C0030920 Peptic Ulcer disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 150 25
C0949690 Spondylarthritis disease Musculoskeletal Diseases Disease or Syndrome 158 23
C0872084 Sarcopenia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 164 10
C0022548 Keloid disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Acquired Abnormality Abnormality of the integument; Abnormality of connective tissue 165 15
C0029458 Osteoporosis, Postmenopausal disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 171 38
C0271183 Severe myopia disease Eye Diseases Disease or Syndrome Abnormality of the eye 184 116
C0333983 Hyperplastic Polyp disease Pathological Conditions, Signs and Symptoms Neoplastic Process 204 22
C1845050 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 209 37