Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1334680 Mediastinal seminoma disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 3 0
C0334518 Polyembryoma disease Neoplasms Neoplastic Process 4 0
C1514225 Poorly Differentiated Neuroblastoma disease Neoplasms Neoplastic Process 6 0
C1866174 Phosphoglycerate Dehydrogenase Deficiency disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome genetic disease; disease of metabolism 6 0
C1859062 LONG QT SYNDROME 3 disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 7 15
C0265345 Lymphedema distichiasis syndrome disease Hemic and Lymphatic Diseases Disease or Syndrome genetic disease 8 2
C0266360 Streak gonad disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 9 0
C1335903 Mucoepidermoid carcinoma of salivary gland disease Neoplasms; Stomatognathic Diseases Neoplastic Process 10 0
C0276926 Schistosoma hematobium infection disease Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity; disease by infectious agent 12 3
C0001614 Adrenal Cortex Diseases group Endocrine System Diseases Disease or Syndrome disease of anatomical entity 13 0
C0595905 cortex bone disorders disease Musculoskeletal Diseases Disease or Syndrome 13 0
C4331229 Recurrent Glioma disease Neoplasms Neoplastic Process 15 0
C0206628 Mesoblastic Nephroma disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 16 0
C1266157 Intratubular malignant germ cells disease Neoplasms Neoplastic Process 16 0
C0348374 Malignant Central Nervous System Neoplasm disease Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 19 0
C2919755 Testicular dysgenesis syndrome disease Disease or Syndrome 19 0
C1704274 Intrauterine adhesions disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome disease of anatomical entity 24 0
C0022118 Transient ischemia disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 25 0
C2987516 Cervix Intraepithelial Neoplasia Grade 3 AJCC v7 disease Neoplasms Neoplastic Process 25 0
C0039373 Tay-Sachs Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 26 16
C0206661 Gonadoblastoma disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 26 2
C0740345 Germ Cell Cancer disease Neoplasms Neoplastic Process 32 0
C0013377 Dysgerminoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 33 3
C1527231 Adrenomyeloneuropathy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 33 2
C1332221 Adult Yolk Sac Tumor disease Neoplasms Neoplastic Process disease of cellular proliferation 35 2