CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0017638 Glioma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 87 97
C0018553 Hamartoma Syndrome, Multiple disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process genetic disease; disease of anatomical entity 9 107
C0018598 Melanoma, Harding-Passey disease Neoplasms Neoplastic Process; Experimental Model of Disease 7 0
C0018916 Hemangioma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the cardiovascular system 4 15
C0020538 Hypertensive disease group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 190 233
C0020564 Hypertrophy phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 18 0
C0020796 Profound Mental Retardation disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 139 0
C0021655 Insulin Resistance phenotype Nutritional and Metabolic Diseases Pathologic Function Abnormality of metabolism/homeostasis 60 53
C0023012 Language Delay phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 11 0
C0023014 Language Development Disorders group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction disease of mental health 11 0
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
C0023798 Lipoma disease Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm; Abnormality of connective tissue 3 8
C0023801 Lipomatosis disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Neoplasm; Abnormality of connective tissue 1 0
C0023890 Liver Cirrhosis disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 103 20
C0023976 Long QT Syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 11 245
C0024121 Lung Neoplasms group Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 265 0
C0024299 Lymphoma group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of blood and blood-forming tissues 40 19
C0025202 melanoma disease Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 248 212
C0025205 Melanoma, Experimental disease Neoplasms Neoplastic Process; Experimental Model of Disease 7 0
C0025286 Meningioma disease Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 19 5
C0025363 Mental Retardation, Psychosocial phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 139 2
C0026613 Motor Skills Disorders group Mental Disorders Mental or Behavioral Dysfunction disease of mental health 8 0
C0027055 Myocardial Reperfusion Injury phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 85 0
C0027626 Neoplasm Invasiveness phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Pathologic Function 184 0
C0027627 Neoplasm Metastasis phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 217 0