rs28937873
×
Entrez Id:
10002
Gene Symbol:
NR2E3
NR2E3
Enhanced S-Cone Syndrome
A
0.820
GeneticVariation
CLINVAR
Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.
25097241
2014
rs28937873
×
Entrez Id:
10002
Gene Symbol:
NR2E3
NR2E3
Enhanced S-Cone Syndrome
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
rs28937873
×
Entrez Id:
10002
Gene Symbol:
NR2E3
NR2E3
Enhanced S-Cone Syndrome
A
0.820
CausalMutation
CLINVAR
A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.
19898638
2009
rs28937873
×
Entrez Id:
10002
Gene Symbol:
NR2E3
NR2E3
Enhanced S-Cone Syndrome
A
0.820
CausalMutation
CLINVAR
Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.
19006237
2009
rs28937873
×
Entrez Id:
10002
Gene Symbol:
NR2E3
NR2E3
Enhanced S-Cone Syndrome
0.820
GeneticVariation
BEFREE
The retinal structure of a young ESCS patient with homozygous R311Q mutation in the NR2E3 gene is similar to that seen in the rd7 mice.
19429590
2009
rs28937873
×
Entrez Id:
10002
Gene Symbol:
NR2E3
NR2E3
Enhanced S-Cone Syndrome
A
0.820
CausalMutation
CLINVAR
Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.
18294254
2008
rs28937873
×
Entrez Id:
10002
Gene Symbol:
NR2E3
NR2E3
Enhanced S-Cone Syndrome
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
rs28937873
×
Entrez Id:
10002
Gene Symbol:
NR2E3
NR2E3
Enhanced S-Cone Syndrome
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
rs28937873
×
Entrez Id:
10002
Gene Symbol:
NR2E3
NR2E3
Enhanced S-Cone Syndrome
0.820
GeneticVariation
BEFREE
We studied the postmortem retina of an ESCS patient homozygous for NR2E3 R311Q .
11773633
2002
rs28937873
×
Entrez Id:
10002
Gene Symbol:
NR2E3
NR2E3
Enhanced S-Cone Syndrome
A
0.820
CausalMutation
CLINVAR
We studied the postmortem retina of an ESCS patient homozygous for NR2E3 R311Q .
11773633
2002
rs28937873
×
Entrez Id:
10002
Gene Symbol:
NR2E3
NR2E3
Enhanced S-Cone Syndrome
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
rs28937873
×
Entrez Id:
10002
Gene Symbol:
NR2E3
NR2E3
Enhanced S-Cone Syndrome
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
rs28937873
×
Entrez Id:
10002
Gene Symbol:
NR2E3
NR2E3
Enhanced S-Cone Syndrome
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
rs28937873
×
Entrez Id:
10002
Gene Symbol:
NR2E3
NR2E3
Enhanced S-Cone Syndrome
0.820
GeneticVariation
UNIPROT
rs104894492
×
Entrez Id:
10002
Gene Symbol:
NR2E3
NR2E3
Enhanced S-Cone Syndrome
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
rs104894492
×
Entrez Id:
10002
Gene Symbol:
NR2E3
NR2E3
Enhanced S-Cone Syndrome
0.800
GeneticVariation
UNIPROT
Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.
19006237
2009
rs104894492
×
Entrez Id:
10002
Gene Symbol:
NR2E3
NR2E3
Enhanced S-Cone Syndrome
0.800
GeneticVariation
UNIPROT
Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.
18294254
2008
rs104894492
×
Entrez Id:
10002
Gene Symbol:
NR2E3
NR2E3
Enhanced S-Cone Syndrome
0.800
GeneticVariation
UNIPROT
Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.
16225923
2005
rs104894492
×
Entrez Id:
10002
Gene Symbol:
NR2E3
NR2E3
Enhanced S-Cone Syndrome
0.800
GeneticVariation
UNIPROT
Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.
15459973
2004
rs104894492
×
Entrez Id:
10002
Gene Symbol:
NR2E3
NR2E3
Enhanced S-Cone Syndrome
0.800
GeneticVariation
UNIPROT
Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration.
12963616
2003
rs104894492
×
Entrez Id:
10002
Gene Symbol:
NR2E3
NR2E3
Enhanced S-Cone Syndrome
0.800
GeneticVariation
UNIPROT
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
rs104894492
×
Entrez Id:
10002
Gene Symbol:
NR2E3
NR2E3
Enhanced S-Cone Syndrome
0.800
GeneticVariation
UNIPROT
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.
10655056
2000
rs104894492
×
Entrez Id:
10002
Gene Symbol:
NR2E3
NR2E3
Enhanced S-Cone Syndrome
T
0.800
CausalMutation
CLINVAR
rs146403122
×
Entrez Id:
10002
Gene Symbol:
NR2E3
NR2E3
Enhanced S-Cone Syndrome
0.720
GeneticVariation
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
rs146403122
×
Entrez Id:
10002
Gene Symbol:
NR2E3
NR2E3
Enhanced S-Cone Syndrome
0.720
GeneticVariation
UNIPROT
The crystal structure of the orphan nuclear receptor NR2E3/PNR ligand binding domain reveals a dimeric auto-repressed conformation.
24069298
2013