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: 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: 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: 5949
Gene Symbol: RBP3
RBP3
retinol binding protein 3 0.621 0.500 1.1E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.660 strong 1.000 0 0 1990 2015
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: 6100
Gene Symbol: RP9
RP9
RP9 pre-mRNA splicing factor 0.670 0.500 1.9E-02
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.320 strong 1.000 0 0 2002 2017
Entrez Id: 9227
Gene Symbol: LRAT
LRAT
lecithin retinol acyltransferase 0.608 0.654 2.8E-02
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.710 strong 1.000 0 0 2007 2018
Entrez Id: 9129
Gene Symbol: PRPF3
PRPF3
pre-mRNA processing factor 3 0.695 0.385 1.00
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.450 strong 1.000 0 0 2002 2019
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: 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: 84140
Gene Symbol: FAM161A
FAM161A
FAM161 centrosomal protein A 0.691 0.308 5.1E-13
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.500 strong 0.938 0 0 2004 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: 768206
Gene Symbol: PRCD
PRCD
photoreceptor disc component 0.700 0.269 1.6E-02
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.460 strong 1.000 0 0 1998 2016
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: 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: 7287
Gene Symbol: TULP1
TULP1
TUB like protein 1 0.623 0.462 5.7E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.500 strong 1.000 0 0 1998 2018
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: 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: 6102
Gene Symbol: RP2
RP2
RP2 activator of ARL3 GTPase 0.670 0.346 0.96
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.680 strong 1.000 0 0 1999 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: 5158
Gene Symbol: PDE6B
PDE6B
phosphodiesterase 6B 0.626 0.346 2.6E-27
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.900 strong 1.000 0 0 1992 2019
Entrez Id: 5148
Gene Symbol: PDE6G
PDE6G
phosphodiesterase 6G 0.695 0.308 1.3E-02
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.720 strong 1.000 0 0 1997 2010
Entrez Id: 23020
Gene Symbol: SNRNP200
SNRNP200
small nuclear ribonucleoprotein U5 subunit 200 0.695 0.500 1.00
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.500 strong 1.000 0 0 2006 2019
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.480 strong 1.000 0 0 2007 2019
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37
chromosome 8 open reading frame 37 0.628 0.538 2.4E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.950 strong 1.000 0 0 2012 2016
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