CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1319315 Adenocarcinoma of large intestine disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 96 420
C1535926 Neurodevelopmental Disorders group Mental Disorders Mental or Behavioral Dysfunction 93 4
C0035126 Reperfusion Injury disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Injury or Poisoning 89 0
C2711227 Steatohepatitis disease Digestive System Diseases Disease or Syndrome Abnormality of the digestive system 88 9
C0015695 Fatty Liver disease Digestive System Diseases Disease or Syndrome genetic disease; disease of metabolism 88 0
C0017638 Glioma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 87 97
C0013421 Dystonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 86 61
C0027055 Myocardial Reperfusion Injury phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 85 0
C0004096 Asthma disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the respiratory system 80 891
C0017636 Glioblastoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 79 137
C0037274 Dermatologic disorders group Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 75 3
C0476089 Endometrial Carcinoma disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 72 99
C0400966 Non-alcoholic Fatty Liver Disease disease Digestive System Diseases Disease or Syndrome genetic disease; disease of metabolism 70 47
C3241937 Nonalcoholic Steatohepatitis disease Digestive System Diseases Disease or Syndrome 70 3
C0555198 Malignant Glioma disease Neoplasms Neoplastic Process disease of cellular proliferation 70 1
C0259783 mixed gliomas disease Neoplasms Neoplastic Process disease of cellular proliferation 70 0
C0021655 Insulin Resistance phenotype Nutritional and Metabolic Diseases Pathologic Function Abnormality of metabolism/homeostasis 60 53
C0920563 Insulin Sensitivity phenotype Nutritional and Metabolic Diseases Pathologic Function 60 0
C0014170 Endometrial Neoplasms group Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation 58 30
C0023418 leukemia disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 55 6
C0149925 Small cell carcinoma of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 54 66
C1168401 Squamous cell carcinoma of the head and neck disease Neoplasms Neoplastic Process disease of cellular proliferation 52 182
C0740457 Malignant neoplasm of kidney disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 45 2
C0549473 Thyroid carcinoma disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 44 41
C0151779 Cutaneous Melanoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the integument; Neoplasm 41 195