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: 54903
Gene Symbol: MKS1
MKS1
MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
disease 0.740 None 1.000 0 2 2004 2012
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
Bardet-Biedl syndrome 10 0.644 0.538 1.7E-12
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
disease 0.700 None 0.974 27 25 1966 2020
Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8
serologically defined colon cancer antigen 8 0.619 0.577 1.2E-11
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
disease 0.640 strong 1.000 0 1 2010 2019
Entrez Id: 54585
Gene Symbol: LZTFL1
LZTFL1
leucine zipper transcription factor like 1 0.638 0.692 5.9E-02
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
disease 0.640 None 1.000 0 2 2012 2019
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
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
disease 0.500 None 1.000 0 1 2008 2019
Entrez Id: 84100
Gene Symbol: ARL6
ARL6
ADP ribosylation factor like GTPase 6 0.636 0.462 1.0E-02
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
disease 0.480 strong 1.000 0 1 1998 2013
Entrez Id: 11020
Gene Symbol: IFT27
IFT27
intraflagellar transport 27 0.670 0.462 5.9E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
disease 0.420 None 1.000 1 2 2014 2019
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
disease 0.400 None 0.982 29 24 1999 2019
Entrez Id: 583
Gene Symbol: BBS2
BBS2
Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
disease 0.400 None 0.976 24 20 1998 2019
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: 8195
Gene Symbol: MKKS
MKKS
McKusick-Kaufman syndrome 0.566 0.692 2.1E-09
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
disease 0.400 None 0.957 5 9 2000 2019
Entrez Id: 123016
Gene Symbol: TTC8
TTC8
tetratricopeptide repeat domain 8 0.631 0.500 1.2E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
disease 0.340 None 1.000 0 2 2003 2011
Entrez Id: 55212
Gene Symbol: BBS7
BBS7
Bardet-Biedl syndrome 7 0.682 0.462 7.1E-09
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
disease 0.200 None 0.933 8 9 2003 2020
Entrez Id: 22954
Gene Symbol: TRIM32
TRIM32
tripartite motif containing 32 0.587 0.769 1.7E-03
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
disease 0.190 None 1.000 4 3 2002 2019
Entrez Id: 166379
Gene Symbol: BBS12
BBS12
Bardet-Biedl syndrome 12 0.674 0.462 2.3E-07
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
disease 0.180 None 1.000 8 13 2007 2019
Entrez Id: 129880
Gene Symbol: BBS5
BBS5
Bardet-Biedl syndrome 5 0.659 0.577 4.8E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
disease 0.180 None 1.000 4 7 1999 2019
Entrez Id: 27241
Gene Symbol: BBS9
BBS9
Bardet-Biedl syndrome 9 0.615 0.577 4.2E-17
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
disease 0.180 None 1.000 2 16 2005 2019
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24
zinc finger DHHC-type containing 24 0.722 0.462 4.2E-04
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
disease 0.100 None 1.000 25 17 2002 2019
Entrez Id: 23245
Gene Symbol: ASTN2
ASTN2
astrotactin 2 0.666 0.462 1.00
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
disease 0.100 None 1.000 4 3 2002 2013
Entrez Id: 54965
Gene Symbol: PIGX
PIGX
phosphatidylinositol glycan anchor biosynthesis class X 0.780 0.308 2.4E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 84984
Gene Symbol: CEP19
CEP19
centrosomal protein 19 0.729 0.346 1.6E-02
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 27095
Gene Symbol: TRAPPC3
TRAPPC3
trafficking protein particle complex 3 0.792 0.385 0.25
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
disease 0.100 None 0 1