Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked
disease Eye Diseases Disease or Syndrome 10 16 0.010 None 1.000 1 1997 1997
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2017 2017
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases Disease or Syndrome 14 20 0.010 None < 0.001 1 2002 2002
Cataract, congenital, with microcornea or slight microphthalmia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome; Congenital Abnormality 4 0.010 None 1.000 1 2004 2004