Gene: NR2E3 ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28937873
rs28937873
NR2E3
A 0.820 CausalMutation CLINVAR Our analysis show that two ESCS mutations, missense mutations R385P and M407K, abolished NR2E3 repressive activity in the context of full-length and Gal4 chimeric receptors, while W234S and R311Q mutants retained their repressive activity in both assays. 17438525

2007
dbSNP: rs28937873
rs28937873
NR2E3
A 0.820 CausalMutation CLINVAR Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies. 18294254

2008
dbSNP: rs28937873
rs28937873
NR2E3
A 0.820 CausalMutation CLINVAR The crystal structure of the orphan nuclear receptor NR2E3/PNR ligand binding domain reveals a dimeric auto-repressed conformation. 24069298

2013
dbSNP: rs28937873
rs28937873
NR2E3
A 0.820 CausalMutation CLINVAR A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3. 19898638

2009
dbSNP: rs28937873
rs28937873
NR2E3
A 0.820 CausalMutation CLINVAR Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. 10655056

2000
dbSNP: rs28937873
rs28937873
NR2E3
A 0.820 CausalMutation CLINVAR The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes. 15689355

2005
dbSNP: rs28937873
rs28937873
NR2E3
A 0.820 GeneticVariation CLINVAR Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. 25097241

2014
dbSNP: rs28937873
rs28937873
NR2E3
A 0.820 CausalMutation CLINVAR We studied the postmortem retina of an ESCS patient homozygous for NR2E3 R311Q. 11773633

2002
dbSNP: rs28937873
rs28937873
NR2E3
A 0.820 GeneticVariation CLINVAR Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. 10655056

2000
dbSNP: rs28937873
rs28937873
NR2E3
A 0.820 CausalMutation CLINVAR Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. 19006237

2009
dbSNP: rs28937873
rs28937873
NR2E3
A 0.820 CausalMutation CLINVAR The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition. 11071390

2000
dbSNP: rs104894492
rs104894492
NR2E3
T 0.800 CausalMutation CLINVAR

dbSNP: rs1555454566
rs1555454566
NR2E3
C 0.700 GeneticVariation CLINVAR Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. 12963616

2003
dbSNP: rs1555454566
rs1555454566
NR2E3
C 0.700 GeneticVariation CLINVAR A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3. 19898638

2009
dbSNP: rs1555454566
rs1555454566
NR2E3
C 0.700 GeneticVariation CLINVAR Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome. 15459973

2004
dbSNP: rs1555454566
rs1555454566
NR2E3
C 0.700 GeneticVariation CLINVAR Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. 27032803

2016
dbSNP: rs1555454566
rs1555454566
NR2E3
C 0.700 GeneticVariation CLINVAR The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patients. 19273793

2009
dbSNP: rs1555454566
rs1555454566
NR2E3
C 0.700 GeneticVariation CLINVAR Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. 10655056

2000
dbSNP: rs1555454566
rs1555454566
NR2E3
C 0.700 GeneticVariation CLINVAR Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome. 21364904

2011
dbSNP: rs1567159701
rs1567159701
NR2E3
A 0.700 CausalMutation CLINVAR

dbSNP: rs2723341
rs2723341
NR2E3
C 0.700 CausalMutation CLINVAR Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies. 18294254

2008
dbSNP: rs2723341
rs2723341
NR2E3
C 0.700 CausalMutation CLINVAR Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome. 15459973

2004
dbSNP: rs28937873
rs28937873
NR2E3
0.820 GeneticVariation UNIPROT

dbSNP: rs104894492
rs104894492
NR2E3
0.800 GeneticVariation UNIPROT The crystal structure of the orphan nuclear receptor NR2E3/PNR ligand binding domain reveals a dimeric auto-repressed conformation. 24069298

2013
dbSNP: rs104894492
rs104894492
NR2E3
0.800 GeneticVariation UNIPROT Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome. 15459973

2004