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: 8842
Gene Symbol: PROM1
PROM1
prominin 1 0.410 0.846 1.9E-22
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.440 strong 1.000 0 0 2007 2017
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
retinoid isomerohydrolase RPE65 0.417 0.808 6.5E-14
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.800 moderate 1.000 0 0 1998 2019
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
bestrophin 1 0.465 0.885 1.8E-12
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.430 strong 1.000 0 0 2009 2019
Entrez Id: 79947
Gene Symbol: DHDDS
DHDDS
dehydrodolichyl diphosphate synthase subunit 0.468 0.885 0.25
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.430 strong 1.000 0 0 2011 2018
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.700 strong 0.974 0 0 1998 2019
Entrez Id: 5950
Gene Symbol: RBP4
RBP4
retinol binding protein 4 0.493 0.808 0.52
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.310 strong 1.000 0 0 2012 2012
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
OFD1 centriole and centriolar satellite protein 0.510 0.808 0.96
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.510 strong 1.000 0 0 2012 2019
Entrez Id: 6010
Gene Symbol: RHO
RHO
rhodopsin 0.525 0.769 1.3E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.700 strong 0.989 0 0 1978 2020
Entrez Id: 28982
Gene Symbol: FLVCR1
FLVCR1
FLVCR heme transporter 1 0.529 0.885 1.3E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.350 strong 1.000 0 0 2010 2019
Entrez Id: 10461
Gene Symbol: MERTK
MERTK
MER proto-oncogene, tyrosine kinase 0.531 0.692 2.7E-11
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.700 strong 1.000 0 0 2000 2019
Entrez Id: 26121
Gene Symbol: PRPF31
PRPF31
pre-mRNA processing factor 31 0.531 0.731 0.98
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.500 strong 1.000 0 0 1996 2019
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.800 strong 1.000 0 0 1995 2019
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
RPGR interacting protein 1 0.553 0.654 1.3E-23
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.680 strong 1.000 0 0 2004 2017
Entrez Id: 1406
Gene Symbol: CRX
CRX
cone-rod homeobox 0.565 0.692 0.51
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.800 strong 1.000 0 0 1997 2018
Entrez Id: 64218
Gene Symbol: SEMA4A
SEMA4A
semaphorin 4A 0.569 0.692 1.8E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.310 moderate 1.000 1 0 2006 2006
Entrez Id: 23418
Gene Symbol: CRB1
CRB1
crumbs cell polarity complex component 1 0.570 0.654 5.6E-16
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.700 strong 0.970 0 0 1999 2019
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D
guanylate cyclase 2D, retinal 0.570 0.769 6.5E-10
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.680 strong 0.875 0 0 2005 2016
Entrez Id: 6295
Gene Symbol: SAG
SAG
S-antigen visual arrestin 0.570 0.731 1.5E-16
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.650 strong 1.000 0 0 1985 2018
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CLN3 lysosomal/endosomal transmembrane protein, battenin 0.572 0.692 1.3E-07
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.410 strong 1.000 0 0 2000 2014
Entrez Id: 11333
Gene Symbol: PDAP1
PDAP1
PDGFA associated protein 1 0.576 0.769 5.0E-02
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.300 limited 0 0
Entrez Id: 6094
Gene Symbol: ROM1
ROM1
retinal outer segment membrane protein 1 0.579 0.654 4.1E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.700 limited 1.000 0 0 1992 2017
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
usherin 0.579 0.692 1.6E-94
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.700 strong 1.000 0 0 1998 2019
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
kelch like family member 7 0.581 0.731 4.6E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.430 strong 1.000 0 0 2009 2017
Entrez Id: 1121
Gene Symbol: CHM
CHM
CHM Rab escort protein 0.592 0.654 1.00
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.440 strong 1.000 0 0 2008 2019
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.430 strong 1.000 2 0 2002 2019