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: 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
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: 5158
Gene Symbol: PDE6B
PDE6B
phosphodiesterase 6B 0.626 0.346 2.6E-27
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.310 limited 1.000 0 0 2000 2000
Entrez Id: 9227
Gene Symbol: LRAT
LRAT
lecithin retinol acyltransferase 0.608 0.654 2.8E-02
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.310 None < 0.001 0 0 2001 2001
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 7306
Gene Symbol: TYRP1
TYRP1
tyrosinase related protein 1 0.507 0.846 6.6E-25
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 limited 1.000 1 0 1999 1999
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: 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: 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: 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: 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: 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: 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: 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: 80184
Gene Symbol: CEP290
CEP290
centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 strong 1.000 1 0 2007 2007
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