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 		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
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
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
dbSNP: rs28937873
rs28937873
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
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
dbSNP: rs28937873
rs28937873
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
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
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 		A 0.820 CausalMutation CLINVAR Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies. 18294254 2008
dbSNP: rs28937873
rs28937873
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
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
dbSNP: rs28937873
rs28937873
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
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
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 		A 0.820 CausalMutation CLINVAR 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 		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
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
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
dbSNP: rs28937873
rs28937873
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
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
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 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: rs121912631
rs121912631
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1970163
Disease:
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: 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: rs121912631
rs121912631
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1970163
Disease:
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: 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 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 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 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 		T 0.800 CausalMutation CLINVAR