Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 346007
Gene Symbol: EYS
EYS
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019

Entrez Id: 346007
Gene Symbol: EYS
EYS
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019

Entrez Id: 346007
Gene Symbol: EYS
EYS
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.700 GeneticVariation CLINVAR A Distinct Phenotype of Eyes Shut Homolog (EYS)-Retinitis Pigmentosa Is Associated With Variants Near the C-Terminus. 29550188

2018

Entrez Id: 346007
Gene Symbol: EYS
EYS
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.700 GeneticVariation CLINVAR NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. 26667666

2015

Entrez Id: 346007
Gene Symbol: EYS
EYS
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.700 CausalMutation 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
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.700 GeneticVariation 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
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.700 GeneticVariation 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
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.700 CausalMutation CLINVAR A paradigm shift in the delivery of services for diagnosis of inherited retinal disease. 22581970

2012

Entrez Id: 346007
Gene Symbol: EYS
EYS
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.700 CausalMutation 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
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.700 CausalMutation 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
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.700 GeneticVariation CLINVAR Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa. 21069908

2010

Entrez Id: 346007
Gene Symbol: EYS
EYS
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.700 GeneticVariation CLINVAR Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. 18976725

2008