Identity
HGNC
LOCATION
6q12
LOCUSID
ALIAS
C6orf178,C6orf179,C6orf180,EGFL10,EGFL11,RP25,SPAM,bA166P24.2,bA307F22.3,bA74E24.1,dJ1018A4.2,dJ22I17.2,dJ303F19.1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 346007
MIM: 612424
HGNC: 21555
Ensembl: ENSG00000188107
Variants:
dbSNP: 346007
ClinVar: 346007
TCGA: ENSG00000188107
COSMIC: EYS
RNA/Proteins
Expression (GTEx)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA133950441 | hmg coa reductase inhibitors | Chemical | ClinicalAnnotation | associated | PD | 29785580 | |
| PA164712781 | HMG CoA reductase inhibitors, other combinations | Chemical | ClinicalAnnotation | associated | PD | 29785580 | |
| PA443635 | Cardiovascular Diseases | Disease | ClinicalAnnotation | associated | PD | 29785580 | |
| PA445549 | Rhabdomyolysis | Disease | ClinicalAnnotation | associated | PD | 29785580 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38646933 | 2024 | Phototoxicity avoidance is a potential therapeutic approach for retinal dystrophy caused by EYS dysfunction. | 0 |
| 38646933 | 2024 | Phototoxicity avoidance is a potential therapeutic approach for retinal dystrophy caused by EYS dysfunction. | 0 |
| 37418643 | 2023 | RETINITIS PIGMENTOSA ASSOCIATED WITH THE EYS C2139Y VARIANT : An Important Cause of Blindness in East Asian Populations. | 0 |
| 37418643 | 2023 | RETINITIS PIGMENTOSA ASSOCIATED WITH THE EYS C2139Y VARIANT : An Important Cause of Blindness in East Asian Populations. | 0 |
| 34689181 | 2022 | Genotypic spectrum and phenotype correlations of EYS-associated disease in a Chinese cohort. | 0 |
| 35710107 | 2022 | Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing. | 5 |
| 36513702 | 2022 | Genotypic and phenotypic profiles of EYS gene-related retinitis pigmentosa: a retrospective study. | 2 |
| 34689181 | 2022 | Genotypic spectrum and phenotype correlations of EYS-associated disease in a Chinese cohort. | 0 |
| 35710107 | 2022 | Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing. | 5 |
| 36513702 | 2022 | Genotypic and phenotypic profiles of EYS gene-related retinitis pigmentosa: a retrospective study. | 2 |
| 32728228 | 2021 | "Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS". | 3 |
| 33514863 | 2021 | A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa. | 2 |
| 33833316 | 2021 | EYS mutations and implementation of minigene assay for variant classification in EYS-associated retinitis pigmentosa in northern Sweden. | 3 |
| 34315337 | 2021 | Investigation of genotype-phenotype relationship in Turkish patients with inherited retinal disease by next generation sequencing. | 2 |
| 32728228 | 2021 | "Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS". | 3 |
Citation
Dessen P
EYS (eyes shut homolog)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54295/eys-(eyes-shut-homolog)
