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 CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 346007
Gene Symbol: EYS
EYS
0.700 GeneticVariation disease BEFREE In particular, non-random occurrence was revealed for SERPINA1 c.1096G > A (alpha-1 antitrypsin deficiency), C8B c.1282C > T and c.1653G > A (complement component 8B deficiency), ATP7B c.3207C > A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G > T (non-classical form of adrenogenital syndrome), EYS c.1155T > A (retinitis pigmentosa), HADHA c.1528G > C (LCHAD deficiency), SCO2 c.418G > A (cytochrome c oxidase deficiency), OTOA c.2359G > T (sensorineural deafness), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T > C (VLCAD deficiency), TGM5 c.337G > T (acral peeling skin syndrome) and VWF c.2561 G > A (von Willebrand disease, type 2N). 31028847 2019
Entrez Id: 346007
Gene Symbol: EYS
EYS
0.700 CausalMutation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 346007
Gene Symbol: EYS
EYS
0.700 GeneticVariation disease BEFREE Inherited mutations in the eyes shut homolog (<i>EYS</i>) gene cause retinitis pigmentosa. 31120796 2019
Entrez Id: 346007
Gene Symbol: EYS
EYS
0.700 GeneticVariation disease BEFREE In particular, mutations in EYS were found in 4 of 14 autosomal recessive RP (29%). 31144483 2019
Entrez Id: 346007
Gene Symbol: EYS
EYS
0.700 GeneticVariation disease BEFREE Multiethnic cohort study (N = 30) with biallelic EYS variants from a clinical IRD database (retinitis pigmentosa [RP], N = 27; cone-rod dystrophy [CRD], N = 1; and macular dystrophy, N = 2). 31074760 2019
Entrez Id: 346007
Gene Symbol: EYS
EYS
0.700 GeneticVariation disease BEFREE Mutations in EYS have been associated with autosomal recessive RP. 30471616 2018
Entrez Id: 346007
Gene Symbol: EYS
EYS
0.700 GeneticVariation disease BEFREE Fundus phenotype in retinitis pigmentosa associated with EYS mutations. 30153090 2018
Entrez Id: 346007
Gene Symbol: EYS
EYS
0.700 GeneticVariation disease BEFREE The visual outcome for non-syndromic RP or USH2 patients with USH2A mutations is consistent with that for RP patients with EYS mutations. 28678594 2018
Entrez Id: 346007
Gene Symbol: EYS
EYS
0.700 GeneticVariation disease BEFREE Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa. 28419563 2018
Entrez Id: 346007
Gene Symbol: EYS
EYS
0.700 Biomarker disease BEFREE Due to the absence of EYS in several rodent species and its retina-specific expression, still little is known about the exact function of EYS and the pathogenic mechanism underlying EYS-associated RP. 30052645 2018
Entrez Id: 346007
Gene Symbol: EYS
EYS
0.700 Biomarker disease BEFREE 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
0.700 GeneticVariation disease 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
0.700 Biomarker disease BEFREE Besides the identification of likely benign alleles previously reported as being probably pathogenic, our comprehensive analysis underscores the need of functional assays to assess the causality of EYS variants, in order to improve molecular diagnostics and counseling of patients with EYS-associated RP. 29159838 2018
Entrez Id: 346007
Gene Symbol: EYS
EYS
0.700 Biomarker disease BEFREE We analyzed defective transcripts of the EYS gene in these cells to elucidate phenotypes of EYS-RP patients because decay of transcripts was previously suggested to be involved in phenotypic variation associated with diseases. 30359287 2018
Entrez Id: 346007
Gene Symbol: EYS
EYS
0.700 Biomarker disease BEFREE Bietti crystalline dystrophy patients with CYP4V2 mutations showed more severe macular choroid atrophy as compared to EYS-related RP patients. 27658286 2017
Entrez Id: 346007
Gene Symbol: EYS
EYS
0.700 GeneticVariation disease BEFREE Mutations in the <i>EYS</i> (eyes shut homolog) gene are a common cause of autosomal recessive (ar) retinitis pigmentosa (RP). 28704921 2017
Entrez Id: 346007
Gene Symbol: EYS
EYS
0.700 Biomarker disease BEFREE This value was significantly smaller in the BCD group than in the EYS-RP and control groups (P < 0.001 in both; no significant difference between the EYS-RP and control groups). 28763560 2017
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
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 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 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 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 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