Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		1.000 Biomarker disease CTD_human
Entrez Id: 4901
Gene Symbol: NRL
NRL 		0.350 CausalMutation disease CLINVAR
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		1.000 GeneticVariation disease BEFREE Enhanced S-cone syndrome (ESCS), also known as Goldmann-Favre syndrome, is a progressive retinal degeneration that frequently presents with night blindness and nummular pigment clumping around the vascular arcades and is caused by recessive mutations in the photoreceptor-specific NR2E3 transcription factor. 20171741 2010
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		1.000 GeneticVariation disease BEFREE A cohort of patients diagnosed with ESCS and harboring known NR2E3 mutations. 23989059 2013
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		1.000 GeneticVariation disease CLINVAR A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3. 19898638 2009
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		1.000 CausalMutation disease CLINVAR A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3. 19898638 2009
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		1.000 Biomarker disease MGD A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse. 10805811 2000
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		1.000 Biomarker disease MGD A novel mutation in Prph2, a gene regulated by Nr2e3, causes retinal degeneration and outer-segment defects similar to Nr2e3 ( rd7/rd7 ) retinas. 18763016 2008
Entrez Id: 23150
Gene Symbol: FRMD4B
FRMD4B 		0.010 GeneticVariation disease BEFREE An FRMD4B variant suppresses dysplastic photoreceptor lesions in models of enhanced S-cone syndrome and of Nrl deficiency. 29947801 2018
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		1.000 GeneticVariation disease UNIPROT Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies. 18294254 2008
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		1.000 CausalMutation disease CLINVAR Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies. 18294254 2008
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		1.000 GeneticVariation disease BEFREE Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene. 17601449 2007
Entrez Id: 4901
Gene Symbol: NRL
NRL 		0.350 GeneticVariation disease BEFREE Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. 29385733 2018
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		1.000 GeneticVariation disease BEFREE Cone Vision Changes in the Enhanced S-Cone Syndrome Caused by NR2E3 Gene Mutations. 29971438 2018
Entrez Id: 4901
Gene Symbol: NRL
NRL 		0.350 GeneticVariation disease BEFREE Correction: Littink, K. W.; et al. Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. Genes 2018, 9, 68. 29518905 2018
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		1.000 GeneticVariation disease CLINVAR Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. 25097241 2014
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		1.000 GeneticVariation disease BEFREE Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome. 21364904 2011
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		1.000 GeneticVariation disease CLINVAR Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome. 21364904 2011
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		1.000 GeneticVariation disease BEFREE Electroretinography responses of both patients were dominated by short-wavelength-sensitive mechanisms, with no detectable rod function, similar to the ERG responses of individuals with enhanced S-cone syndrome (ESCS) due to NR2E3 mutations. 27732723 2016
Entrez Id: 4901
Gene Symbol: NRL
NRL 		0.350 Biomarker disease MGD Gene Therapy Fully Restores Vision to the All-Cone Nrl(-/-) Gucy2e(-/-) Mouse Model of Leber Congenital Amaurosis-1. 26247368 2015
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		1.000 GeneticVariation disease BEFREE Genetic analysis identified the presence of novel double heterozygous of c.361G>A; p.E121K in NR2E3, a gene responsible for enhanced S-cone syndrome (ESCS; OMIM #268100) and c.244A>G; p.K82E in OPN1LW, a gene responsible for blue cone monochromacy (BCM; OMIM#303700). 30614359 2019
Entrez Id: 5956
Gene Symbol: OPN1LW
OPN1LW 		0.010 GeneticVariation disease BEFREE Genetic analysis identified the presence of novel double heterozygous of c.361G>A; p.E121K in NR2E3, a gene responsible for enhanced S-cone syndrome (ESCS; OMIM #268100) and c.244A>G; p.K82E in OPN1LW, a gene responsible for blue cone monochromacy (BCM; OMIM#303700). 30614359 2019
Entrez Id: 6011
Gene Symbol: GRK1
GRK1 		0.010 Biomarker disease BEFREE Immunocytochemistry was performed with antibodies against cone opsins and kinases GRK1 and GRK7 in postmortem normal and ESCS retinal tissue. 12601058 2003
Entrez Id: 131890
Gene Symbol: GRK7
GRK7 		0.010 Biomarker disease BEFREE Immunocytochemistry was performed with antibodies against cone opsins and kinases GRK1 and GRK7 in postmortem normal and ESCS retinal tissue. 12601058 2003