Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0740391 Middle Cerebral Artery Occlusion disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 607 0
C1318485 Liver regeneration disorder phenotype Digestive System Diseases Disease or Syndrome Abnormality of the digestive system 345 0
C1658953 tumor vasculature phenotype Neoplastic Process 200 0
C0878500 Intraepithelial Neoplasia disease Neoplasms Neoplastic Process 186 0
C0376154 Skin callus disease Skin and Connective Tissue Diseases Acquired Abnormality 154 0
C0037579 Soft Tissue Neoplasms group Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm 141 0
C1318544 M5b Acute differentiated monocytic leukemia disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 122 0
C1851710 LATERAL MENINGOCELE SYNDROME disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease 118 0
C0339543 Epiretinal Membrane disease Eye Diseases Acquired Abnormality disease of anatomical entity Abnormality of the eye 97 0
C0332840 Amputated structure (morphologic abnormality) phenotype Wounds and Injuries Acquired Abnormality 94 0
C0205824 Liposarcoma, Dedifferentiated disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 92 0
C1519666 Tumor-Associated Vasculature disease Acquired Abnormality 84 0
C0392784 Dermatofibrosarcoma Protuberans disease Neoplasms Neoplastic Process 78 0
C3693482 Giant Cell Fibroblastoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 77 0
C0432408 Trisomy 12 phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 76 0
C0279593 Adult B Acute Lymphoblastic Leukemia disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 74 0
C0598894 Monocytic leukemia disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 71 0
C0029182 orbit (eye disorders) group Eye Diseases Disease or Syndrome disease of anatomical entity 64 0
C0206657 Alveolar Soft Part Sarcoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm 61 0
C0279613 Childhood Alveolar Rhabdomyosarcoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 59 0
C4528668 Acute myeloid leukaemia refractory disease Neoplasms Neoplastic Process 58 0
C0278694 Disseminated neuroblastoma disease Neoplasms Neoplastic Process 56 0
C1266119 Solitary fibrous tumor disease Neoplasms Neoplastic Process 56 0
C1334699 Mesenchymal Cell Neoplasm disease Neoplasms Neoplastic Process disease of cellular proliferation 55 0
C0205944 Sarcoma, Epithelioid disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 53 0