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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 Biomarker disease GENOMICS_ENGLAND