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: rs1278137915
rs1278137915
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
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: rs1278137915
rs1278137915
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
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: rs1278137915
rs1278137915
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: rs1278137915
rs1278137915
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
dbSNP: rs1278137915
rs1278137915
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
Enhanced S-Cone Syndrome 		0.700 GeneticVariation UNIPROT Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome. 15459973 2004
dbSNP: rs1278137915
rs1278137915
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
Enhanced S-Cone Syndrome 		0.700 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: rs1278137915
rs1278137915
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
Enhanced S-Cone Syndrome 		0.700 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: rs1278137915
rs1278137915
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
Enhanced S-Cone Syndrome 		0.700 GeneticVariation UNIPROT Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. 10655056 2000