RS1, retinoschisin 1, 6247

N. diseases: 43; N. variants: 67
Disease: Retinoschisis, Juvenile, X-Linked ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family. 25168411 2014
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 Biomarker disease BEFREE Besides, the therapeutic plasmid which encodes the protein retinoschisin was employed achieving a positive transfection in ARPE-19 cells, showing a promising application of this new non-viral system for the treatment of X-linked juvenile retinoschisis by gene therapy. 24576595 2014
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE To date, more than 196 different mutations of the RS1 gene have been associated with XLRS. 24138048 2014
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE X-linked retinoschisis (XLRS) is a vitreo-retinal degeneration caused by mutations in the RS1 gene which encodes the protein retinoschisin (RS1), required for the structural and functional integrity of the retina. 23847049 2013
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE The juvenile X-linked retinoschisis (XLRS) is a retinal disease caused by mutations in the secretory protein, retinoschisin (RS1). 22292953 2012
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE Four novel RS1 gene mutations in Polish patients with X-linked juvenile retinoschisis. 23288992 2012
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 Biomarker disease BEFREE Furthermore, altered localization of ATP1A3 and ATP1B2 is a notable consequence of retinoschisin deficiency and thus may be an important downstream aspect of cellular pathology in XLRS. 21196491 2011
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene. 22110067 2011
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 Biomarker disease CTD_human Retinoschisin is encoded by the gene responsible for X-linked retinoschisis (XLRS), an early onset macular degeneration that results in a splitting of the inner layers of the retina and severe loss in vision. 21738583 2011
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE Mutations in the XLRS1 gene in Thai families with X-linked juvenile retinoschisis. 20151283 2010
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE RS1 gene mutations cause X-linked retinoschisis disease (XLRS) in males, characterized by early-onset central vision loss. 20809529 2010
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE Here, we report molecular modeling of the RS1 protein and consider perturbations caused by mutations found in human XLRS subjects. 20061330 2010
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 Biomarker disease BEFREE Six XLRS males underwent ophthalmic examination and electroretinogram (ERG) recording.The RS1 gene was sequenced. 19474399 2009
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE X-linked juvenile retinoschisis (XLRS) is a neurodevelopmental abnormality caused by retinoschisin gene mutations. 19458650 2009
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 Biomarker disease BEFREE This study showed that the response of macular cysts to dorzolamide in patients with XLRS may be observed independent of the mechanism responsible for retinoschisin protein dysfunction. 18834580 2009
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE We characterized the mutational spectrum of the RS1 gene in Korean patients with XLRS, and aimed to provide genetic information of XLRS in an Asian population. 19390641 2009
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE To present the ocular findings of a Hungarian family with X-linked juvenile retinoschisis (XLRS) and to reveal a novel putative splice mutation leading to serious truncation of retinoschisin (RS1) protein. 18728755 2008
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE RS1 gene mutations caused X-linked juvenile retinoschisis in these Chinese families. 18369700 2008
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE Six patients with XLRS and identified mutations in the XLRS1 gene underwent testing. 18541843 2008
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE MDA products were used for polymerase chain reaction analysis of two polymorphic markers flanking the RS1 gene and a new X/Y marker, X22, to sex embryos in an X-linked retinoschisis PGD programme. 18549702 2008
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE Although the limited data failed to reveal a correlation between mutations and disease phenotypes our identification of novel mutations in the XLRS1 gene will facilitate early and correct diagnosis and genetic counseling regarding the prognosis of XLRS disease. 17852193 2007
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE The wide variability in the phenotype in Chinese patients with XLRS and different mutations in the RS1 gene is described. 17615541 2007
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE The purpose of this study was to identify the mutations in the RS1 gene associated with XLRS in an Indian cohort. 17515881 2007
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE X-linked retinoschisis: novel mutation in the initiation codon of the XLRS1 gene in a large family. 17031297 2006
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE Unusual phenotypic expression of an XLRS1 mutation in X-linked juvenile retinoschisis. 16900931 2006