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 CausalMutation disease CLINVAR EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression. 28704921 2017
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 CausalMutation disease CLINVAR Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population. 26787102 2016
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 CausalMutation disease CLINVAR Molecular findings from 537 individuals with inherited retinal disease. 27208204 2016
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 GeneticVariation disease CLINVAR Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations. 26161267 2015
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 CausalMutation disease CLINVAR Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. 25412400 2015
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 GeneticVariation disease CLINVAR Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations. 26261414 2015
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 Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. 25097241 2014
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 GeneticVariation disease CLINVAR Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping. 24474277 2014
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 CausalMutation disease CLINVAR High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population. 21217109 2011
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 GeneticVariation disease UNIPROT EYS is a major gene for rod-cone dystrophies in France. 20333770 2010
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 GeneticVariation disease UNIPROT Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa. 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 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 Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population. 20375346 2010
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 CausalMutation disease CLINVAR EYS is a major gene for rod-cone dystrophies in France. 20333770 2010
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 GeneticVariation 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 UNIPROT 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 UNIPROT 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 UNIPROT 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 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 Biomarker disease CTD_human
Entrez Id: 346007
Gene Symbol: EYS
EYS 		0.700 Biomarker disease GENOMICS_ENGLAND