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: 138050
Gene Symbol: HGSNAT
HGSNAT
heparan-alpha-glucosaminide N-acetyltransferase 0.628 0.577 6.3E-08
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.420 None 1.000 0 1 2015 2017
Entrez Id: 80781
Gene Symbol: COL18A1
COL18A1
collagen type XVIII alpha 1 chain 0.449 0.808 1.7E-10
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.100 None 0 1
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: 5264
Gene Symbol: PHYH
PHYH
phytanoyl-CoA 2-hydroxylase 0.659 0.577 2.4E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.100 None 1.000 2 2 1997 2004
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: 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: 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
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: 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: 79738
Gene Symbol: BBS10
BBS10
Bardet-Biedl syndrome 10 0.644 0.538 1.7E-12
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.100 None 1.000 1 2 2006 2006
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1
clarin 1 0.633 0.423 1.7E-08
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.660 None 1.000 1 2 2002 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: 64072
Gene Symbol: CDH23
CDH23
cadherin related 23 0.539 0.769 3.2E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.130 None 1.000 1 2 2002 2019
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1
IQ motif containing B1 0.641 0.654 1.4E-12
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.130 None 1.000 1 2 2005 2019
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: 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: 755
Gene Symbol: CFAP410
CFAP410
cilia and flagella associated protein 410 0.633 0.615 3.3E-07
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.110 None 1.000 0 2 2016 2016
Entrez Id: 9187
Gene Symbol: SLC24A1
SLC24A1
solute carrier family 24 member 1 0.716 0.154 9.2E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.110 None 1.000 0 2 2016 2016
Entrez Id: 94137
Gene Symbol: RP1L1
RP1L1
RP1 like 1 0.780 0.154 1.8E-10
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.110 None 1.000 0 2 2013 2013
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: 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 2 2012 2016
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: 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: 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 3 3 2002 2019
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
retinaldehyde binding protein 1 0.644 0.500 1.1E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.440 strong 0.800 1 3 1990 2015