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: 585
Gene Symbol: BBS4
BBS4 		Bardet-Biedl syndrome 4 0.647 0.615 1.5E-16
CUI: C2936864
Disease: Bardet-Biedl syndrome 4 (disorder)
Bardet-Biedl syndrome 4 (disorder) 		disease 0.910 None 1.000 3 7 2001 2019
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		Bardet-Biedl syndrome 4 0.647 0.615 1.5E-16
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease 0.410 strong 1.000 0 2 1998 1998
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		Bardet-Biedl syndrome 4 0.647 0.615 1.5E-16
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		disease 0.400 None 1.000 6 17 1997 2019
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		Bardet-Biedl syndrome 4 0.647 0.615 1.5E-16
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease 0.120 None 1.000 0 1 2002 2005
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		Bardet-Biedl syndrome 4 0.647 0.615 1.5E-16
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		disease 0.100 None 0 1
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		Bardet-Biedl syndrome 4 0.647 0.615 1.5E-16
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.100 None 0 1
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		Bardet-Biedl syndrome 4 0.647 0.615 1.5E-16
CUI: C0332154
Disease: Received therapy or drug for
Received therapy or drug for 		phenotype 0.100 None 0 1
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		Bardet-Biedl syndrome 4 0.647 0.615 1.5E-16
CUI: C0269209
Disease: Hydrometrocolpos
Hydrometrocolpos 		disease 0.100 None 0 1
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		Bardet-Biedl syndrome 4 0.647 0.615 1.5E-16
CUI: C0035637
Disease: Rinderpest
Rinderpest 		disease 0.100 None 0 1
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		Bardet-Biedl syndrome 4 0.647 0.615 1.5E-16
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype 0.100 None 0 2