Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0006826 Malignant Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 8621 1641
C1306459 Primary malignant neoplasm group Neoplasms Neoplastic Process disease of cellular proliferation 8221 1374
C0006142 Malignant neoplasm of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 6941 3417
C0678222 Breast Carcinoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the breast 6776 2793
C1269955 Tumor Cell Invasion phenotype Neoplastic Process 6626 169
C1621958 Glioblastoma Multiforme disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 3197 186
C0017636 Glioblastoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 3177 281
C0017638 Glioma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 3097 353
C0025202 melanoma disease Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 3087 515
C0278878 Adult Glioblastoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2528 98
C0280474 Childhood Glioblastoma disease Neoplasms Neoplastic Process 2527 98
C3714756 Intellectual Disability group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 2165 159
C0036572 Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 2152 553
C0026827 Muscle hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 967 579
C1858120 Generalized hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 955 164
C0004134 Ataxia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 868 68
C1449563 Cardiomyopathy, Familial Idiopathic disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 773 243
C0018799 Heart Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 537 45
C0860207 Drug-Induced Liver Disease phenotype Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 537 29
C0030305 Pancreatitis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 502 80
C0007124 Noninfiltrating Intraductal Carcinoma disease Neoplasms Neoplastic Process Neoplasm; Abnormality of the breast 486 13
C0008312 Primary biliary cirrhosis disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 478 667
C4277682 Chemical and Drug Induced Liver Injury disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 461 38
C0013421 Dystonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 453 97
C0036857 Severe intellectual disability disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction genetic disease; disease of mental health Abnormality of the nervous system 429 74