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: 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: 1767
Gene Symbol: DNAH5
DNAH5
dynein axonemal heavy chain 5 0.590 0.692 4.9E-64
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0
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: 1769
Gene Symbol: DNAH8
DNAH8
dynein axonemal heavy chain 8 0.556 0.731 1.1E-60
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 None 0 0
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 None 0 0
Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11
dynein axonemal heavy chain 11 0.587 0.692 2.5E-58
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0
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: 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: 84059
Gene Symbol: ADGRV1
ADGRV1
adhesion G protein-coupled receptor V1 0.572 0.731 3.2E-39
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
myosin VIIA 0.585 0.423 1.6E-38
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0
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: 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: 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: 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: 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: 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: 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: 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: 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: 2121
Gene Symbol: EVC
EVC
EvC ciliary complex subunit 1 0.587 0.577 3.5E-25
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 None 0 0
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
protocadherin related 15 0.601 0.577 8.0E-25
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0
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: 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: 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: 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