Source: CLINVAR ×
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: C3714980
Disease: BARDET-BIEDL SYNDROME 17
BARDET-BIEDL SYNDROME 17 		disease Disease or Syndrome 1 3 0.900 None 1.000 0 3 2012 2016
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 23 157 0.640 None 1.000 0 2 2012 2019