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: 6121
Gene Symbol: RPE65
RPE65
retinoid isomerohydrolase RPE65 0.417 0.808 6.5E-14
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.320 None 1.000 0 0 2014 2020
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: 4653
Gene Symbol: MYOC
MYOC
myocilin 0.595 0.500 7.6E-12
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.330 limited 1.000 0 0 2002 2019
Entrez Id: 1406
Gene Symbol: CRX
CRX
cone-rod homeobox 0.565 0.692 0.51
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.310 None 1.000 0 0 2019 2019
Entrez Id: 4693
Gene Symbol: NDP
NDP
norrin cystine knot growth factor NDP 0.566 0.692 0.65
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.310 strong 1.000 1 0 1995 2018
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: 4041
Gene Symbol: LRP5
LRP5
LDL receptor related protein 5 0.485 0.846 0.51
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 22999
Gene Symbol: RIMS1
RIMS1
regulating synaptic membrane exocytosis 1 0.700 0.231 0.99
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 limited 1.000 1 0 2017 2017
Entrez Id: 7299
Gene Symbol: TYR
TYR
tyrosinase 0.473 0.808 5.0E-32
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 limited 1.000 1 0 2017 2017
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: 1121
Gene Symbol: CHM
CHM
CHM Rab escort protein 0.592 0.654 1.00
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.330 None 1.000 0 0 1997 2017
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.450 0.769 1.00
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.380 None 1.000 0 0 1999 2017
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: 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: 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: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.340 None 1.000 0 0 2000 2015
Entrez Id: 375298
Gene Symbol: CERKL
CERKL
ceramide kinase like 0.678 0.308 9.8E-25
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.310 None 1.000 0 0 2015 2015
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: 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: 778
Gene Symbol: CACNA1F
CACNA1F
calcium voltage-gated channel subunit alpha1 F 0.595 0.500 1.2E-05
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.330 limited 1.000 0 0 2007 2014
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: 169522
Gene Symbol: KCNV2
KCNV2
potassium voltage-gated channel modifier subfamily V member 2 0.736 0.115 1.2E-26
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.310 None 1.000 0 0 2013 2013
Entrez Id: 60506
Gene Symbol: NYX
NYX
nyctalopin 0.678 0.192 0.13
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.310 limited 1.000 0 0 2013 2013
Entrez Id: 83552
Gene Symbol: MFRP
MFRP
membrane frizzled-related protein 0.621 0.538 1.3E-15
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.310 strong 1.000 0 0 2013 2013