Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0027651 Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 10161 1644
C1458155 Mammary Neoplasms group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the breast 2780 385
C0919267 ovarian neoplasm disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 2542 757
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
C0030193 Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Constitutional symptom 1554 196
C0024121 Lung Neoplasms group Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 1486 39
C0023903 Liver neoplasms group Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 1424 7
C1261473 Sarcoma group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 853 42
C4551686 Malignant neoplasm of soft tissue group Neoplasms Neoplastic Process disease of cellular proliferation 699 32
C0149931 Migraine Disorders group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 512 264
C0575081 Gait abnormality group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 312 23
C0042963 Vomiting phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the digestive system 303 23
C4551915 Gait Disturbance, CTCAE phenotype Finding 299 0
C0014474 Ependymoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 244 8
C1851584 Childhood Ependymoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 147 3
C0278874 Adult Ependymoma disease Neoplasms Neoplastic Process 144 3
C0796611 Newly Diagnosed Childhood Ependymoma disease Neoplasms Neoplastic Process 144 3
C0427065 Distal muscle weakness phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding Abnormality of the musculature 117 16
C0037930 Spinal Cord Neoplasms group Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 27 1
C0392699 Dysesthesia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 22 3
C0038874 Supratentorial Neoplasms group Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 12 2
C4476793 Abnormal cell morphology phenotype Anatomical Abnormality Abnormal cellular phenotype 12 1
C0278650 Childhood Supratentorial Ependymoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 12 0
C4289581 RELA fusion-positive ependymoma disease Neoplasms Neoplastic Process 6 0
C1266131 Chondroid lipoma disease Neoplasms Neoplastic Process disease of cellular proliferation 2 0