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: 145226
Gene Symbol: RDH12
RDH12
retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 1.000 2 0 2011 2019
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 1.000 1 0 2013 2013
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 1.000 1 0 2008 2008
Entrez Id: 762
Gene Symbol: CA4
CA4
carbonic anhydrase 4 0.674 0.577 7.1E-06
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 1.000 1 0 2004 2004
Entrez Id: 26504
Gene Symbol: CNNM4
CNNM4
cyclin and CBS domain divalent metal cation transport mediator 4 0.695 0.346 2.9E-07
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.310 None 1.000 1 0 2013 2016
Entrez Id: 64218
Gene Symbol: SEMA4A
SEMA4A
semaphorin 4A 0.569 0.692 1.8E-05
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.310 None 1.000 1 0 2006 2006
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT
beta 3-glucosyltransferase 0.554 0.731 7.1E-17
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 1.000 1 0 2008 2008
Entrez Id: 341640
Gene Symbol: FREM2
FREM2
FRAS1 related extracellular matrix 2 0.566 0.577 3.6E-11
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 1.000 1 0 2005 2005
Entrez Id: 5149
Gene Symbol: PDE6H
PDE6H
phosphodiesterase 6H 0.700 0.269 8.3E-03
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 1.000 1 0 2015 2015
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
major facilitator superfamily domain containing 8 0.682 0.231 2.5E-12
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 1.000 1 0 2015 2015
Entrez Id: 6102
Gene Symbol: RP2
RP2
RP2 activator of ARL3 GTPase 0.670 0.346 0.96
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 1.000 1 0 2011 2011
Entrez Id: 6101
Gene Symbol: RP1
RP1
RP1 axonemal microtubule associated 0.663 0.462 4.4E-13
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 1.000 1 0 2005 2005
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
aryl hydrocarbon receptor interacting protein like 1 0.644 0.346 1.2E-05
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 1.000 1 0 2014 2014
Entrez Id: 5309
Gene Symbol: PITX3
PITX3
paired like homeodomain 3 0.585 0.692 0.81
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 1.000 1 0 2010 2010
Entrez Id: 23426
Gene Symbol: GRIP1
GRIP1
glutamate receptor interacting protein 1 0.581 0.769 0.51
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 1.000 1 0 2012 2012
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3
cyclic nucleotide gated channel subunit alpha 3 0.650 0.154 8.0E-20
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.310 None 1.000 1 0 2014 2017
Entrez Id: 4935
Gene Symbol: GPR143
GPR143
G protein-coupled receptor 143 0.659 0.385 0.93
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.310 None 1.000 1 0 2005 2009
Entrez Id: 8754
Gene Symbol: ADAM9
ADAM9
ADAM metallopeptidase domain 9 0.560 0.654 2.9E-02
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 1.000 1 0 2014 2014
Entrez Id: 84100
Gene Symbol: ARL6
ARL6
ADP ribosylation factor like GTPase 6 0.636 0.462 1.0E-02
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 1.000 1 0 2009 2009
Entrez Id: 2979
Gene Symbol: GUCA1B
GUCA1B
guanylate cyclase activator 1B 0.682 0.423 2.1E-04
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 1.000 1 0 2011 2011
Entrez Id: 8322
Gene Symbol: FZD4
FZD4
frizzled class receptor 4 0.490 0.923 0.97
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 1.000 1 0 2017 2017
Entrez Id: 4117
Gene Symbol: MAK
MAK
male germ cell associated kinase 0.695 0.346 8.6E-19
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 1.000 1 0 2010 2010
Entrez Id: 23418
Gene Symbol: CRB1
CRB1
crumbs cell polarity complex component 1 0.570 0.654 5.6E-16
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.320 None 1.000 1 0 2004 2015
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
cyclic nucleotide gated channel subunit beta 3 0.633 0.192 7.8E-19
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 0 0
Entrez Id: 346007
Gene Symbol: EYS
EYS
eyes shut homolog 0.631 0.538 3.7E-41
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 0 0