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.
Arthrogryposis with renal dysfunction and cholestasis syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 12 0.050 None 1.000 5 2012 2018
CUI: C0001857
Disease: AIDS related complex
AIDS related complex
disease Infections; Immune System Diseases Disease or Syndrome 100 43 0.020 None 1.000 2 2010 2019
CUI: C0008370
Disease: Cholestasis
Cholestasis
disease Digestive System Diseases Disease or Syndrome 420 15 0.010 None 1.000 1 2019 2019