Source: CLINVAR

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: 10594
Gene Symbol: PRPF8
PRPF8
pre-mRNA processing factor 8 0.631 0.615 1.00
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.500 strong 1.000 1 2 2001 2018
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 1 4 2006 2019
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 1 2002 2019
Entrez Id: 10210
Gene Symbol: TOPORS
TOPORS
TOP1 binding arginine/serine rich protein 0.659 0.538 1.00
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.430 strong 1.000 3 2 2007 2019
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 1 1 2008 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 3 23 1995 2019
Entrez Id: 23469
Gene Symbol: PHF3
PHF3
PHD finger protein 3 0.760 0.192 0.99
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.100 None 1.000 2 13 2018 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 8 1996 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 1 5 1999 2019
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 3 1997 2018
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 6 1 2011 2018
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
peripherin 2 0.551 0.500 0.12
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.200 None 0.974 2 9 1991 2019
Entrez Id: 114757
Gene Symbol: CYGB
CYGB
cytoglobin 0.579 0.577 0.10
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.100 None 0 2
Entrez Id: 4901
Gene Symbol: NRL
NRL
neural retina leucine zipper 0.647 0.462 4.8E-02
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.670 strong 0.750 0 1 1999 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 1 2007 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 2 1998 2016
Entrez Id: 84100
Gene Symbol: ARL6
ARL6
ADP ribosylation factor like GTPase 6 0.636 0.462 1.0E-02
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.610 strong 1.000 1 1 2009 2013
Entrez Id: 49855
Gene Symbol: SCAPER
SCAPER
S-phase cyclin A associated protein in the ER 0.653 0.500 8.8E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.410 None 1.000 1 1 2017 2019
Entrez Id: 24148
Gene Symbol: PRPF6
PRPF6
pre-mRNA processing factor 6 0.621 0.538 3.2E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.420 strong 1.000 0 1 2011 2012
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 3 1998 2018
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24
zinc finger DHHC-type containing 24 0.722 0.462 4.2E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.100 None 1.000 2 2 2002 2019
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
guanylate cyclase activator 1A 0.647 0.500 4.1E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.140 None 1.000 1 1 1998 2013
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 1 1992 2017
Entrez Id: 338917
Gene Symbol: VSX2
VSX2
visual system homeobox 2 0.695 0.462 1.6E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.100 None 0 1
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 6 20 1978 2020