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: rs1555454566
rs1555454566
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
Enhanced S-Cone Syndrome 		C 0.700 GeneticVariation CLINVAR Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. 27032803 2016
dbSNP: rs1555454566
rs1555454566
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
Enhanced S-Cone Syndrome 		C 0.700 GeneticVariation CLINVAR Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome. 21364904 2011
dbSNP: rs1555454566
rs1555454566
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
Enhanced S-Cone Syndrome 		C 0.700 GeneticVariation CLINVAR A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3. 19898638 2009
dbSNP: rs1555454566
rs1555454566
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
Enhanced S-Cone Syndrome 		C 0.700 GeneticVariation CLINVAR The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patients. 19273793 2009
dbSNP: rs1555454566
rs1555454566
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
Enhanced S-Cone Syndrome 		C 0.700 GeneticVariation CLINVAR Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome. 15459973 2004
dbSNP: rs1555454566
rs1555454566
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
Enhanced S-Cone Syndrome 		C 0.700 GeneticVariation CLINVAR Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. 12963616 2003
dbSNP: rs1555454566
rs1555454566
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1849394
Disease:
Enhanced S-Cone Syndrome 		C 0.700 GeneticVariation CLINVAR Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. 10655056 2000