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: C0020179
Disease: Huntington Disease
Huntington Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 978 115 0.040 None 1.000 4 2001 2019
CUI: C0272322
Disease: Severe hereditary factor VIII deficiency disease
Severe hereditary factor VIII deficiency disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 37 15 0.010 None 1.000 1 1997 1997