Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C2919142 Short Stature, CTCAE phenotype Finding 1010 0
C1963184 Nystagmus, CTCAE 3.0 phenotype Finding 779 0
C4554036 Nystagmus, CTCAE 5.0 phenotype Finding 779 0
C1853242 Midface retrusion phenotype Finding Abnormality of head or neck 228 0
C0039103 Synovitis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 197 0
C0243038 Carcinoma, Lewis Lung disease Neoplasms Neoplastic Process; Experimental Model of Disease 188 0
C0878500 Intraepithelial Neoplasia disease Neoplasms Neoplastic Process 186 0
C1292753 Primary Effusion Lymphoma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 169 0
C0206659 Embryonal Carcinoma disease Neoplasms Neoplastic Process disease of cellular proliferation 165 0
C0544886 Somatic mutation phenotype Cell or Molecular Dysfunction 151 0
C0037579 Soft Tissue Neoplasms group Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm 145 0
C1963094 Dry Skin, CTCAE phenotype Finding 137 0
C1962966 Retinopathy, CTCAE phenotype Finding 108 0
C3544205 Ovarian clear cell carcinoma disease Neoplastic Process 103 0
C0027659 Neoplasms, Experimental phenotype Neoplasms Neoplastic Process; Experimental Model of Disease 95 0
C0205824 Liposarcoma, Dedifferentiated disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 95 0
C0162830 Dermatitis, Phototoxic disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 89 0
C0346627 Intestinal Cancer disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 89 0
C4553962 Hyperkeratosis, CTCAE phenotype Finding 87 0
C0279672 Cervical Adenocarcinoma disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation 82 0
C0259783 mixed gliomas disease Neoplasms Neoplastic Process disease of cellular proliferation 76 0
C1519353 Skin Papule phenotype Skin and Connective Tissue Diseases Finding 74 0
C1963099 Myelodysplasia, CTCAE phenotype Finding 68 0
C0158761 Radioulnar Synostosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity; physical disorder Abnormality of limbs; Abnormality of the skeletal system 67 0
C0206685 Acinar Cell Carcinoma disease Neoplasms Neoplastic Process disease of cellular proliferation 65 0