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: 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 1 6 2007 2019
Entrez Id: 102723377
Gene Symbol: CDH23-AS1
CDH23-AS1
CDH23 antisense RNA 1 0.839 0.192
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 116933
Gene Symbol: CLRN1-AS1
CLRN1-AS1
CLRN1 antisense RNA 1 0.821 0.269
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.100 None 1.000 1 2 2002 2002
Entrez Id: 100616530
Gene Symbol: C8orf37-AS1
C8orf37-AS1
C8orf37 antisense RNA 1 0.821 0.154
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.100 None 0 2
Entrez Id: 55857
Gene Symbol: KIZ
KIZ
kizuna centrosomal protein 0.722 0.308
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.400 None 1.000 0 1 2014 2014
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 16 53 1998 2019
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.150 None 1.000 1 4 2006 2019
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 8 19 1998 2019
Entrez Id: 346007
Gene Symbol: EYS
EYS
eyes shut homolog 0.631 0.538 3.7E-41
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.700 strong 0.974 11 46 2005 2019
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
myosin VIIA 0.585 0.423 1.6E-38
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.180 None 1.000 1 2 1996 2019
Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1
cyclic nucleotide gated channel subunit beta 1 0.628 0.538 1.8E-37
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.680 strong 1.000 6 12 2001 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 9 18 1992 2019
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.410 None 1.000 0 7 2015 2015
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A
phosphodiesterase 6A 0.691 0.269 6.6E-25
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.900 strong 1.000 6 7 1995 2019
Entrez Id: 375298
Gene Symbol: CERKL
CERKL
ceramide kinase like 0.678 0.308 9.8E-25
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.490 strong 1.000 6 3 2004 2019
Entrez Id: 9742
Gene Symbol: IFT140
IFT140
intraflagellar transport 140 0.572 0.692 9.9E-24
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.420 None 1.000 1 2 2015 2016
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 1 2004 2017
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
zinc finger FYVE-type containing 26 0.636 0.615 4.7E-23
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.100 None 0 3
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 1 3 2007 2017
Entrez Id: 23093
Gene Symbol: TTLL5
TTLL5
tubulin tyrosine ligase like 5 0.686 0.500 2.9E-22
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.100 None 0 1
Entrez Id: 92211
Gene Symbol: CDHR1
CDHR1
cadherin related family member 1 0.670 0.308 2.8E-21
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.400 None 1.000 1 2 2010 2019
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
cyclic nucleotide gated channel subunit beta 3 0.633 0.192 7.8E-19
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 4117
Gene Symbol: MAK
MAK
male germ cell associated kinase 0.695 0.346 8.6E-19
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.470 strong 1.000 0 4 2010 2018
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
photoreceptor cilium actin regulator 0.674 0.346 3.0E-18
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.440 strong 1.000 2 6 2010 2015
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
USH1 protein network component harmonin 0.628 0.538 4.0E-18
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.110 None 1.000 1 2 2011 2019