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: 583
Gene Symbol: BBS2
BBS2 		Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
Bardet-Biedl syndrome 2 (disorder) 		disease 0.910 None 1.000 27 46 2001 2019