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: 8481
Gene Symbol: OFD1
OFD1
OFD1 centriole and centriolar satellite protein 0.510 0.808 0.96
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.550 definitive 1.000 0 0 2006 2017
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
WD repeat domain 19 0.554 0.769 4.6E-11
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.550 None 1.000 0 0 2011 2018
Entrez Id: 374654
Gene Symbol: KIF7
KIF7
kinesin family member 7 0.528 0.731 2.3E-22
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.540 None 1.000 0 0 2011 2019
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.400 None 1.000 0 0 2006 2019
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.390 None 1.000 0 0 2008 2018
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L
RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.370 None 1.000 0 0 2007 2019
Entrez Id: 583
Gene Symbol: BBS2
BBS2
Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.360 None 1.000 0 0 2011 2019
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
dynein cytoplasmic 2 heavy chain 1 0.555 0.731 1.1E-44
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.350 None 1.000 0 0 2011 2018
Entrez Id: 4750
Gene Symbol: NEK1
NEK1
NIMA related kinase 1 0.575 0.769 1.9E-25
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.340 None 1.000 0 0 2011 2017
Entrez Id: 8195
Gene Symbol: MKKS
MKKS
McKusick-Kaufman syndrome 0.566 0.692 2.1E-09
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.340 None 1.000 0 0 2007 2019
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
ADP ribosylation factor like GTPase 13B 0.631 0.538 2.7E-09
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.340 None 1.000 0 0 2015 2019
Entrez Id: 284086
Gene Symbol: NEK8
NEK8
NIMA related kinase 8 0.631 0.500 6.5E-09
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.340 None 1.000 0 0 2010 2013
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.340 None 1.000 0 0 2007 2016
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
ciliogenesis and planar polarity effector 1 0.575 0.692 5.9E-36
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.340 None 1.000 0 0 2014 2019
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.340 None 1.000 0 0 2008 2016
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1
IQ motif containing B1 0.641 0.654 1.4E-12
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.340 None 1.000 0 0 2011 2018
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.340 None 1.000 0 0 2013 2019
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B
tetratricopeptide repeat domain 21B 0.619 0.654 2.7E-26
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.330 None 1.000 0 0 2011 2018
Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8
serologically defined colon cancer antigen 8 0.619 0.577 1.2E-11
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.330 None 1.000 0 0 2010 2018
Entrez Id: 23090
Gene Symbol: ZNF423
ZNF423
zinc finger protein 423 0.592 0.808 1.00
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.330 None 1.000 0 0 2012 2017
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3
nephrocystin 3 0.597 0.654 9.8E-16
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.330 None 1.000 0 0 2013 2017
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
nephrocystin 1 0.572 0.731 1.2E-17
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.330 None 1.000 0 0 2007 2014
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
WD repeat domain 35 0.525 0.692 1.0E-22
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.330 None 1.000 0 0 2012 2018
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.330 None 1.000 0 0 2008 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