Gene: EYS ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 GeneticVariation disease BEFREE RP25, a locus for autosomal recessive retinitis pigmentosa (arRP), the most frequently inherited form of RP, was mapped to chromosome 6q between D6S257 and D6S1644 microsatellite markers. 16273301 2005
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 GeneticVariation disease BEFREE Therefore, we chose to perform molecular evaluation of this gene as a good candidate in arRP families linked to the RP25 interval. 17803723 2008
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 GeneticVariation disease BEFREE To date, a total of 26 loci have been reported for arRP, each having a prevalence of 1-5%, except for the RP25 locus which was identified as the genetic cause of 14% of arRP cases in Spain. 18510647 2008
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 Biomarker disease CTD_human EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa. 18836446 2008
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 GeneticVariation disease LHGDN EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa. 18836446 2008
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 GeneticVariation disease CLINVAR Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. 18976725 2008
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 GeneticVariation disease LHGDN Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. 18976725 2008
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 CausalMutation disease CLINVAR Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype. 20537394 2010
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 Biomarker disease BEFREE The EYS gene is a recently identified disease-causing gene for retinitis pigmentosa, and encodes the orthologue of Drosophila spacemaker. 20696082 2010
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 GeneticVariation disease CLINVAR Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa. 21069908 2010
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 GeneticVariation disease BEFREE Results suggest that midsized genomic rearrangements in EYS gene would be a common event in the appearance of RP phenotype. 21519034 2011
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 CausalMutation disease CLINVAR Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing. 22164218 2011
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 GeneticVariation disease BEFREE To screen for disease-causing mutations in the Eyes shut homolog (EYS) gene in Japanese patients with retinitis pigmentosa (RP).Methods. 22302105 2012
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 GeneticVariation disease BEFREE Recently, arRP has been associated with mutations in EYS (Eyes shut homolog), which is a major causative gene for this disease. 22363543 2012
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 CausalMutation disease CLINVAR A paradigm shift in the delivery of services for diagnosis of inherited retinal disease. 22581970 2012
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 GeneticVariation disease BEFREE To characterize the clinical phenotypes associated with previously-reported mutations of the eyes shut homolog (EYS) gene, including a truncating mutation, c.4957_4958insA, which is a major causative mutation for retinitis pigmentosa (RP) in Japan. 23421333 2014
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 GeneticVariation disease CLINVAR Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. 24265693 2013
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 GeneticVariation disease CLINVAR Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa. 25268133 2014
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 GeneticVariation disease BEFREE In particular, mutations in EYS accounted for 15.0% of the autosomal recessive/simplex RP patients or 10.7% of the entire RP cohort. 25324289 2014
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 GeneticVariation disease BEFREE In addition, this is the first report of data regarding the association between EYS mutations and non-syndromic RP forms in the Italian population. 25366773 2014
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 CausalMutation disease CLINVAR Histopathological comparison of eyes from patients with autosomal recessive retinitis pigmentosa caused by novel EYS mutations. 25491159 2015
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 GeneticVariation disease CLINVAR NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. 26667666 2015
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 Biomarker disease BEFREE In conclusion, our findings expand the spectrum of EYS mutations in RP in the Indian population and provide further support for the role of EYS in the pathogenesis and clinical diagnosis of RP. 26787102 2016
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 GeneticVariation disease BEFREE Inner segment ellipsoid band length is a prognostic factor in retinitis pigmentosa associated with EYS mutations: 5-year observation of retinal structure. 27564720 2016