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: 1259
Gene Symbol: CNGA1
CNGA1
cyclic nucleotide gated channel subunit alpha 1 0.695 0.269 2.8E-11
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.640 strong 1.000 6 8 1995 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: 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: 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: 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 3 13 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: 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: 285440
Gene Symbol: CYP4V2
CYP4V2
cytochrome P450 family 4 subfamily V member 2 0.670 0.577 2.2E-10
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.430 strong 1.000 1 1 2012 2017
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: 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: 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 6 7 2004 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: 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: 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: 3614
Gene Symbol: IMPDH1
IMPDH1
inosine monophosphate dehydrogenase 1 0.623 0.462 5.8E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.700 strong 1.000 0 1 2002 2020
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
interphotoreceptor matrix proteoglycan 2 0.659 0.308 2.8E-13
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.420 strong 1.000 0 8 2010 2014
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: 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: 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 3 2009 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: 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: 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 2 4 2000 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: 152519
Gene Symbol: NIPAL1
NIPAL1
NIPA like domain containing 1 0.760 0.346 2.5E-10
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.100 None 1.000 6 8 1995 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 1 6 2007 2019