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: 57728
Gene Symbol: WDR19
WDR19
WD repeat domain 19 0.584 0.586 8.7E-11
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
group 0.530 strong 1.000 0 0 2012 2018
Entrez Id: 132320
Gene Symbol: SCLT1
SCLT1
sodium channel and clathrin linker 1 0.696 0.448 4.0E-16
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
group 0.520 strong 1.000 0 0 2014 2014
Entrez Id: 374654
Gene Symbol: KIF7
KIF7
kinesin family member 7 0.573 0.621 1.1E-20
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
group 0.510 strong 1.000 0 0 2011 2011
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
centrosomal protein 290 0.546 0.724 1.8E-54
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
group 0.400 strong 1.000 0 0 2006 2016
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
transmembrane protein 67 0.559 0.655 1.9E-23
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
group 0.390 strong 1.000 0 0 2008 2016
Entrez Id: 9742
Gene Symbol: IFT140
IFT140
intraflagellar transport 140 0.607 0.552 1.4E-22
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
group 0.340 strong 1.000 0 0 2013 2017
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
OFD1, centriole and centriolar satellite protein 0.547 0.724 0.97
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
group 0.340 strong 1.000 0 0 2013 2017
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
KIAA0586 0.659 0.517 1.2E-13
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
group 0.340 strong 1.000 0 0 2015 2016
Entrez Id: 8195
Gene Symbol: MKKS
MKKS
McKusick-Kaufman syndrome 0.579 0.690 3.4E-09
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
group 0.340 strong 1.000 0 0 2007 2012
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L
RPGRIP1 like 0.569 0.655 6.5E-31
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
group 0.340 strong 1.000 0 0 2007 2012
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
Meckel syndrome, type 1 0.546 0.690 4.6E-16
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
group 0.340 strong 1.000 0 0 2007 2014
Entrez Id: 284086
Gene Symbol: NEK8
NEK8
NIMA related kinase 8 0.685 0.379 1.4E-08
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
group 0.340 strong 1.000 0 0 2010 2013
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
coiled-coil and C2 domain containing 2A 0.559 0.621 2.6E-26
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
group 0.330 strong 1.000 0 0 2008 2016
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
inositol polyphosphate-5-phosphatase E 0.630 0.552 3.8E-03
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
group 0.330 strong 1.000 0 0 2009 2016
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
dynein cytoplasmic 2 heavy chain 1 0.624 0.621 1.7E-38
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
group 0.330 strong 1.000 0 0 2011 2013
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
intraflagellar transport 122 0.586 0.448 4.5E-24
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
group 0.330 strong 1.000 0 0 2010 2017
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
nephrocystin 1 0.619 0.552 1.7E-17
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
group 0.330 strong 1.000 0 0 2007 2014
Entrez Id: 63929
Gene Symbol: XPNPEP3
XPNPEP3
X-prolyl aminopeptidase 3 0.799 0.207 1.8E-08
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
group 0.320 strong 1.000 0 0 2010 2010
Entrez Id: 26123
Gene Symbol: TCTN3
TCTN3
tectonic family member 3 0.607 0.517 2.6E-12
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
group 0.320 strong 1.000 0 0 2012 2013
Entrez Id: 755
Gene Symbol: C21orf2
C21orf2
chromosome 21 open reading frame 2 0.663 0.414 3.5E-07
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
group 0.320 strong 1.000 0 0 2015 2016
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
intraflagellar transport 172 0.604 0.621 1.3E-31
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
group 0.320 strong 1.000 0 0 2015 2015
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
ADP ribosylation factor like GTPase 13B 0.752 0.345 6.1E-08
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
group 0.320 strong 1.000 0 0 2015 2016
Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8
serologically defined colon cancer antigen 8 0.602 0.621 1.3E-11
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
group 0.320 strong 1.000 0 0 2010 2013
Entrez Id: 84314
Gene Symbol: TMEM107
TMEM107
transmembrane protein 107 0.663 0.414 3.0E-08
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
group 0.320 strong 1.000 0 0 2016 2016
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.565 0.793 1.0E-24
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
group 0.320 strong 1.000 0 0 2013 2015