Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 92482
Gene Symbol: BBIP1
BBIP1 		BBSome interacting protein 1 0.695 0.423 4.2E-03
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		disease 0.610 None 1.000 0 1 2013 2014