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: 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: 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
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: 63929
Gene Symbol: XPNPEP3
XPNPEP3
X-prolyl aminopeptidase 3 0.769 0.269 1.9E-08
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.320 limited 1.000 1 0 2010 2010
Entrez Id: 115399
Gene Symbol: LRRC56
LRRC56
leucine rich repeat containing 56 0.670 0.500 7.7E-10
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 None 1.000 1 0 2018 2018
Entrez Id: 6340
Gene Symbol: SCNN1G
SCNN1G
sodium channel epithelial 1 subunit gamma 0.633 0.577 0.48
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 None 0 0
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
cadherin related 23 0.539 0.769 3.2E-06
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0
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: 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: 55172
Gene Symbol: DNAAF2
DNAAF2
dynein axonemal assembly factor 2 0.678 0.538 6.5E-09
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: 7044
Gene Symbol: LEFTY2
LEFTY2
left-right determination factor 2 0.736 0.231 2.9E-04
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
TSC complex subunit 1 0.440 0.808 1.00
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
TSC complex subunit 2 0.439 0.808 1.00
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
sodium channel epithelial 1 subunit beta 0.628 0.577 5.8E-08
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 None 0 0
Entrez Id: 6337
Gene Symbol: SCNN1A
SCNN1A
sodium channel epithelial 1 subunit alpha 0.601 0.577 1.1E-11
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 None 0 0
Entrez Id: 55212
Gene Symbol: BBS7
BBS7
Bardet-Biedl syndrome 7 0.682 0.462 7.1E-09
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 None 0 0
Entrez Id: 55812
Gene Symbol: SPATA7
SPATA7
spermatogenesis associated 7 0.656 0.385 5.2E-13
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease 0.300 limited 0 0
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: 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: 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: 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: 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: 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