CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1269955 Tumor Cell Invasion phenotype Neoplastic Process 6626 169
C0027627 Neoplasm Metastasis phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327
C1306460 Primary malignant neoplasm of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981
C0178874 Tumor Progression phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72
C0686619 Secondary malignant neoplasm of lymph node disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2825 188
C0011881 Diabetic Nephropathy disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1189 238
C2985280 Blood Protein Measurement phenotype Laboratory Procedure 1156 2575
C1623038 Cirrhosis disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110
C0022660 Kidney Failure, Acute disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome Abnormality of the genitourinary system 826 32
C2316810 Chronic kidney disease stage 5 disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome Abnormality of the genitourinary system 666 194
C0018133 Graft-vs-Host Disease disease Immune System Diseases Disease or Syndrome 447 25
C0948089 Acute Coronary Syndrome disease Cardiovascular Diseases Disease or Syndrome 440 139
C0151517 Complete atrioventricular block disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 403 96
C0220650 Metastatic malignant neoplasm to brain disease Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases Neoplastic Process 392 28
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
C0333983 Hyperplastic Polyp disease Pathological Conditions, Signs and Symptoms Neoplastic Process 204 22
C0271183 Severe myopia disease Eye Diseases Disease or Syndrome Abnormality of the eye 184 116
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
C0872084 Sarcopenia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 164 10
C0949690 Spondylarthritis disease Musculoskeletal Diseases Disease or Syndrome 158 23
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
C0043144 Wheezing phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the respiratory system 132 54
C0206677 Adenomatous Polyps disease Neoplasms Neoplastic Process 120 20
C1868938 End stage cardiac failure disease Disease or Syndrome 76 2
C0263746 Osteoarthritis of the hand disease Musculoskeletal Diseases Disease or Syndrome 61 21