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: 582
Gene Symbol: BBS1
BBS1 		Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease 0.430 strong 1.000 3 3 2002 2019