Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome
1.000 GeneticVariation disease BEFREE Mutations in NR2E3 typically lead to recessive enhanced S-cone syndrome (ESCS), where affected individuals show higher sensitivity to short wavelength light and early onset rod dysfunction. 30466340 2019
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome
1.000 Biomarker disease BEFREE S-cone perimetry data from <i>NR2E3</i>-ESCS (enhanced S-cone syndrome) patients were examined and determined to have five stages of disease severity. 31117170 2019
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome
1.000 GeneticVariation disease 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
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome
1.000 GeneticVariation disease BEFREE Cone Vision Changes in the Enhanced S-Cone Syndrome Caused by NR2E3 Gene Mutations. 29971438 2018
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome
1.000 GeneticVariation disease BEFREE Electroretinography responses of both patients were dominated by short-wavelength-sensitive mechanisms, with no detectable rod function, similar to the ERG responses of individuals with enhanced S-cone syndrome (ESCS) due to NR2E3 mutations. 27732723 2016
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome
1.000 GeneticVariation disease CLINVAR Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. 27032803 2016
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome
1.000 GeneticVariation disease BEFREE The authors previously reported details on enhanced S-cone syndrome (ESCS) in a 23-year-old male patient with a homozygous NR2E3 mutation (p.Q350X) who developed large bilateral macular retinoschisis. 26878455 2016
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome
1.000 GeneticVariation disease BEFREE New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome. 27522502 2016
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome
1.000 GeneticVariation disease BEFREE Mutations in human NR2E3 are associated with several retinal degenerations including enhanced S cone syndrome and retinitis pigmentosa. 24498227 2014
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome
1.000 GeneticVariation disease CLINVAR Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. 25097241 2014
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome
1.000 GeneticVariation disease UNIPROT Mutations in the NR2E3-encoding gene cause various retinal degenerations, including Enhanced S-cone syndrome, retinitis pigmentosa, and Goldman-Favre disease. 24069298 2013
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome
1.000 GeneticVariation disease BEFREE A cohort of patients diagnosed with ESCS and harboring known NR2E3 mutations. 23989059 2013
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome
1.000 GeneticVariation disease BEFREE The diagnosis of enhanced S-cone syndrome was suggested by the uniquely abnormal electroretinographic pattern and was confirmed by the finding of homozygous NR2E3 mutations. 23039133 2013
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome
1.000 CausalMutation disease CLINVAR Mutations in the NR2E3-encoding gene cause various retinal degenerations, including Enhanced S-cone syndrome, retinitis pigmentosa, and Goldman-Favre disease. 24069298 2013
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome
1.000 GeneticVariation disease BEFREE The purpose of this study is to report the ophthalmic features of a 25-year-old Portuguese male with a typical ESCS phenotype and a novel homozygous NR2E3 mutation. 20725840 2011
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome
1.000 GeneticVariation disease BEFREE Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome. 21364904 2011
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome
1.000 GeneticVariation disease CLINVAR Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome. 21364904 2011
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome
1.000 GeneticVariation disease 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
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome
1.000 GeneticVariation disease BEFREE Enhanced S-cone syndrome (ESCS), also known as Goldmann-Favre syndrome, is a progressive retinal degeneration that frequently presents with night blindness and nummular pigment clumping around the vascular arcades and is caused by recessive mutations in the photoreceptor-specific NR2E3 transcription factor. 20171741 2010
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome
1.000 GeneticVariation disease BEFREE Mutations in NR2E3 are associated with enhanced S-cone syndrome and related retinal phenotypes that reveal characteristic excess of S-cone function. 19898638 2009
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome
1.000 GeneticVariation disease UNIPROT Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. 19006237 2009
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome
1.000 CausalMutation disease CLINVAR Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. 19006237 2009
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome
1.000 GeneticVariation disease CLINVAR A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3. 19898638 2009
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome
1.000 Biomarker disease BEFREE Our results demonstrate the involvement of NR2E3 in enhanced S-cone syndrome and retinitis pigmentosa phenotypes in our populations. 19273793 2009
CUI: C1849394
Disease: Enhanced S-Cone Syndrome
Enhanced S-Cone Syndrome
1.000 GeneticVariation disease BEFREE Two novel NR2E3 mutations are described that are associated with Goldmann-Favre syndrome and enhanced S-cone syndrome. 19139342 2009