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: 57560
Gene Symbol: IFT80
IFT80
intraflagellar transport 80 0.575 0.692 1.4E-19
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.320 None 1.000 0 0 2018 2019
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
PKHD1 ciliary IPT domain containing fibrocystin/polyductin 0.576 0.654 1.2E-47
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.320 None 1.000 0 0 2015 2019
Entrez Id: 167691
Gene Symbol: LCA5
LCA5
lebercilin LCA5 0.674 0.269 4.1E-05
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.320 limited 1.000 0 0 2009 2018
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
RPGR interacting protein 1 0.553 0.654 1.3E-23
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.320 limited 1.000 0 0 2009 2011
Entrez Id: 22897
Gene Symbol: CEP164
CEP164
centrosomal protein 164 0.711 0.462 4.8E-27
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.320 strong 1.000 0 0 2012 2014
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
B9 domain containing 1 0.572 0.692 2.8E-03
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.310 limited 1.000 3 0 2011 2016
Entrez Id: 79140
Gene Symbol: CCDC28B
CCDC28B
coiled-coil domain containing 28B 0.659 0.538 3.2E-09
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.310 limited 1.000 1 0 2013 2013
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.310 None 1.000 0 0 2019 2019
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216
transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.310 None 1.000 0 0 2012 2012
Entrez Id: 27241
Gene Symbol: BBS9
BBS9
Bardet-Biedl syndrome 9 0.615 0.577 4.2E-17
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.310 None 1.000 0 0 2012 2012
Entrez Id: 27130
Gene Symbol: INVS
INVS
inversin 0.619 0.538 5.6E-18
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.310 None 1.000 0 0 2018 2018
Entrez Id: 79867
Gene Symbol: TCTN2
TCTN2
tectonic family member 2 0.578 0.654 1.8E-14
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.310 None 1.000 0 0 2018 2018
Entrez Id: 129880
Gene Symbol: BBS5
BBS5
Bardet-Biedl syndrome 5 0.659 0.577 4.8E-06
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.310 None 1.000 0 0 2019 2019
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
EvC ciliary complex subunit 2 0.585 0.692 1.0E-34
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.310 None 1.000 0 0 2016 2016
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
transmembrane protein 231 0.554 0.692 3.1E-07
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.310 None 1.000 0 0 2013 2013
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
usherin 0.579 0.692 1.6E-94
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.310 limited 1.000 0 0 2009 2009
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
uromodulin 0.520 0.846 3.1E-17
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.310 None 1.000 0 0 2014 2014
Entrez Id: 22954
Gene Symbol: TRIM32
TRIM32
tripartite motif containing 32 0.587 0.769 1.7E-03
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.310 None 1.000 0 0 2014 2014
Entrez Id: 23418
Gene Symbol: CRB1
CRB1
crumbs cell polarity complex component 1 0.570 0.654 5.6E-16
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.310 limited 1.000 0 0 2017 2017
Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237
transmembrane protein 237 0.612 0.538 1.9E-12
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.310 None 1.000 0 0 2011 2011
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4
nephrocystin 4 0.674 0.423 1.7E-29
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.310 None 1.000 0 0 2007 2007
Entrez Id: 585
Gene Symbol: BBS4
BBS4
Bardet-Biedl syndrome 4 0.647 0.615 1.5E-16
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.310 None 1.000 0 0 2019 2019
Entrez Id: 7287
Gene Symbol: TULP1
TULP1
TUB like protein 1 0.623 0.462 5.7E-04
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.310 limited 1.000 0 0 2014 2014
Entrez Id: 84662
Gene Symbol: GLIS2
GLIS2
GLIS family zinc finger 2 0.608 0.462 0.86
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.310 None 1.000 0 0 2014 2014
Entrez Id: 80776
Gene Symbol: B9D2
B9D2
B9 domain containing 2 0.606 0.577 5.3E-05
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 None 1.000 2 0 2011 2015