Source: GENOMICS_ENGLAND

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: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		disease 0.940 None 1.000 3 0 1999 2017
Entrez Id: 79140
Gene Symbol: CCDC28B
CCDC28B 		coiled-coil domain containing 28B 0.659 0.538 3.2E-09
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		disease 0.500 limited 1.000 1 0 2013 2013
Entrez Id: 8195
Gene Symbol: MKKS
MKKS 		McKusick-Kaufman syndrome 0.566 0.692 2.1E-09
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		disease 0.400 strong 1.000 1 0 2000 2017
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		Bardet-Biedl syndrome 10 0.644 0.538 1.7E-12
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		disease 0.400 strong 0 0
Entrez Id: 27241
Gene Symbol: BBS9
BBS9 		Bardet-Biedl syndrome 9 0.615 0.577 4.2E-17
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		disease 0.400 strong 0 0
Entrez Id: 84100
Gene Symbol: ARL6
ARL6 		ADP ribosylation factor like GTPase 6 0.636 0.462 1.0E-02
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		disease 0.300 None 1.000 3 0 2004 2009
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		disease 0.300 strong 1.000 2 0 2007 2007
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		disease 0.300 strong 1.000 1 0 2006 2006
Entrez Id: 22954
Gene Symbol: TRIM32
TRIM32 		tripartite motif containing 32 0.587 0.769 1.7E-03
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		disease 0.300 strong 1.000 1 0 2008 2008
Entrez Id: 123016
Gene Symbol: TTC8
TTC8 		tetratricopeptide repeat domain 8 0.631 0.500 1.2E-06
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		disease 0.300 strong 1.000 1 0 2010 2010
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		disease 0.300 strong 0 0
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		Bardet-Biedl syndrome 4 0.647 0.615 1.5E-16
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		disease 0.300 strong 0 0
Entrez Id: 51057
Gene Symbol: WDPCP
WDPCP 		WD repeat containing planar cell polarity effector 0.576 0.769 1.1E-10
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		disease 0.300 strong 0 0
Entrez Id: 166379
Gene Symbol: BBS12
BBS12 		Bardet-Biedl syndrome 12 0.674 0.462 2.3E-07
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		disease 0.300 strong 0 0
Entrez Id: 55212
Gene Symbol: BBS7
BBS7 		Bardet-Biedl syndrome 7 0.682 0.462 7.1E-09
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		disease 0.300 strong 0 0
Entrez Id: 129880
Gene Symbol: BBS5
BBS5 		Bardet-Biedl syndrome 5 0.659 0.577 4.8E-06
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		disease 0.300 strong 0 0