Disease: Enhanced S-Cone Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28937873
rs28937873
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
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
dbSNP: rs28937873
rs28937873
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
Enhanced S-Cone Syndrome 		0.820 GeneticVariation BEFREE We studied the postmortem retina of an ESCS patient homozygous for NR2E3 R311Q. 11773633 2002
dbSNP: rs28937873
rs28937873
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
Enhanced S-Cone Syndrome 		0.820 GeneticVariation UNIPROT
dbSNP: rs104894492
rs104894492
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
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
dbSNP: rs104894492
rs104894492
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
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
dbSNP: rs104894492
rs104894492
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
Enhanced S-Cone Syndrome 		0.800 GeneticVariation UNIPROT Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome. 15459973 2004
dbSNP: rs104894492
rs104894492
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
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
dbSNP: rs104894492
rs104894492
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
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
dbSNP: rs104894492
rs104894492
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
Enhanced S-Cone Syndrome 		0.800 GeneticVariation UNIPROT Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies. 18294254 2008
dbSNP: rs104894492
rs104894492
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
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
dbSNP: rs104894492
rs104894492
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
Enhanced S-Cone Syndrome 		0.800 GeneticVariation UNIPROT Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. 19006237 2009
dbSNP: rs146403122
rs146403122
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
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
dbSNP: rs146403122
rs146403122
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
Enhanced S-Cone Syndrome 		0.720 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
dbSNP: rs146403122
rs146403122
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
Enhanced S-Cone Syndrome 		0.720 GeneticVariation UNIPROT Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies. 18294254 2008
dbSNP: rs146403122
rs146403122
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
Enhanced S-Cone Syndrome 		0.720 GeneticVariation UNIPROT Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. 19006237 2009
dbSNP: rs146403122
rs146403122
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
Enhanced S-Cone Syndrome 		0.720 GeneticVariation UNIPROT Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. 10655056 2000
dbSNP: rs146403122
rs146403122
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
Enhanced S-Cone Syndrome 		0.720 GeneticVariation UNIPROT Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity. 16225923 2005
dbSNP: rs146403122
rs146403122
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
Enhanced S-Cone Syndrome 		0.720 GeneticVariation BEFREE The p.E121K variant of NR2E3, which reportedly caused enhanced S-cone syndrome (ESCS) in Caucasians, was found concurrently in RP patients (13.4%) and control subjects from Hong Kong (10.5%) and Beijing (12.8%). 19933183 2010
dbSNP: rs146403122
rs146403122
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
Enhanced S-Cone Syndrome 		0.720 GeneticVariation UNIPROT Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome. 15459973 2004
dbSNP: rs146403122
rs146403122
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
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
dbSNP: rs146403122
rs146403122
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
Enhanced S-Cone Syndrome 		0.720 GeneticVariation UNIPROT Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. 12963616 2003
dbSNP: rs377257254
rs377257254
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
Enhanced S-Cone Syndrome 		0.710 GeneticVariation UNIPROT
dbSNP: rs377257254
rs377257254
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
Enhanced S-Cone Syndrome 		0.710 GeneticVariation BEFREE The p.Ala256Val mutation affects the ligand binding domain of the NR2E3 nuclear receptor only, resulting in modestly impaired ESCS ERG results. 17601449 2007
dbSNP: rs104894493
rs104894493
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
Enhanced S-Cone Syndrome 		0.700 GeneticVariation UNIPROT Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies. 18294254 2008
dbSNP: rs104894493
rs104894493
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
Enhanced S-Cone Syndrome 		0.700 GeneticVariation UNIPROT Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity. 16225923 2005