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: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.500 strong 1.000 0 0 2007 2007
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: 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: 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: 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: 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: 4942
Gene Symbol: OAT
OAT 		ornithine aminotransferase 0.593 0.731 7.7E-07
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.330 None 1.000 0 0 1988 1992
Entrez Id: 6657
Gene Symbol: SOX2
SOX2 		SRY-box transcription factor 2 0.405 0.808 0.71
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.330 limited 1.000 0 0 2006 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: 7439
Gene Symbol: BEST1
BEST1 		bestrophin 1 0.465 0.885 1.8E-12
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.320 strong 1.000 1 0 1997 2009
Entrez Id: 652
Gene Symbol: BMP4
BMP4 		bone morphogenetic protein 4 0.422 0.808 0.96
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.320 limited 1.000 0 0 2008 2011
Entrez Id: 5015
Gene Symbol: OTX2
OTX2 		orthodenticle homeobox 2 0.514 0.808 0.92
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.320 strong 1.000 0 0 2008 2009
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: 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: 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: 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: 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: 64220
Gene Symbol: STRA6
STRA6 		signaling receptor and transporter of retinol STRA6 0.597 0.731 1.5E-10
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.310 limited 1.000 0 0 2013 2013
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		retinol dehydrogenase 5 0.656 0.462 8.9E-11
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.310 limited 1.000 0 0 2001 2001
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D 		guanylate cyclase 2D, retinal 0.570 0.769 6.5E-10
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.310 None 1.000 0 0 2000 2000
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: 6103
Gene Symbol: RPGR
RPGR 		retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.310 None 1.000 0 0 2009 2009