Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28937873
rs28937873
NR2E3
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		0.820 GeneticVariation UNIPROT

dbSNP: rs104894492
rs104894492
NR2E3
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
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
NR2E3
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
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: rs104894492
rs104894492
NR2E3
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
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
NR2E3
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
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
NR2E3
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
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
NR2E3
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
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
NR2E3
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
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
NR2E3
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
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: rs121912631
rs121912631
NR2E3
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder) 		0.800 GeneticVariation UNIPROT Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. 19006237

2009
dbSNP: rs121912631
rs121912631
NR2E3
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder) 		0.800 GeneticVariation UNIPROT Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa. 17564971

2007
dbSNP: rs146403122
rs146403122
NR2E3
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
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
NR2E3
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
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
NR2E3
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
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
NR2E3
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
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
NR2E3
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
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
NR2E3
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
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: rs146403122
rs146403122
NR2E3
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
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
NR2E3
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
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: rs377257254
rs377257254
NR2E3
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		0.710 GeneticVariation UNIPROT

dbSNP: rs104894493
rs104894493
NR2E3
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		0.700 GeneticVariation UNIPROT The crystal structure of the orphan nuclear receptor NR2E3/PNR ligand binding domain reveals a dimeric auto-repressed conformation. 24069298

2013
dbSNP: rs104894493
rs104894493
NR2E3
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		0.700 GeneticVariation UNIPROT Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. 19006237

2009
dbSNP: rs104894493
rs104894493
NR2E3
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
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
NR2E3
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
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
dbSNP: rs104894493
rs104894493
NR2E3
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome 		0.700 GeneticVariation UNIPROT Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome. 15459973

2004