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 Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation. 16361673 2006
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 Biomarker disease CTD_human An ENU-induced mutation in Rs1h causes disruption of retinal structure and function. 16088326 2005
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE Identification of XLRS1 gene mutation (608C > T) in a Portuguese family with juvenile retinoschisis. 16167295 2005
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE To report four cases of genetically verified juvenile X-linked retinoschisis (XLRS) with normal scotopic b-waves in full-field ERG, including one patient with a novel mutation (W50X) in the RS1 gene. 16272055 2005
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 Biomarker disease MGD An ENU-induced mutation in Rs1h causes disruption of retinal structure and function. 16088326 2005
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE The aim of the present study was to review both the phenotypic features of XLRS and the mutation spectrum of the RS1 gene in an Australian cohort. 15932525 2005
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 AlteredExpression disease BEFREE We show here that in an Rs1h-deficient mouse model of human RS, delivery of the human RS1 cDNA with an AAV vector restored expression of retinoschisin to both photoreceptors and the inner retina essentially identical to that seen in wild-type mice. 16027044 2005
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE Novel 473-bp deletion in XLRS1 gene in a Japanese family with X-linked juvenile retinoschisis. 14986011 2004
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 Biomarker disease MGD An X-linked retinoschisis mouse (Rs1h-KO) model was created by substituting a neomycin resistance cassette for exon 1 and 1.6 kb of intron 1 of Rs1h, the murine orthologue of the human RS-1 gene. 15326152 2004
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 Biomarker disease BEFREE To create and evaluate a mouse model of human X-linked juvenile retinoschisis (XLRS) and then investigate whether supplementing with the retinoschisin protein by gene delivery can reverse the abnormal "electronegative" electroretinogram (ERG) retinal response. 15326152 2004
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE Two cases of X-linked juvenile retinoschisis with different optical coherence tomography findings and RS1 gene mutations. 15281981 2004
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE We examined the XLRS1 gene for mutations in 6 Japanese patients with X-linked juvenile retinoschisis from a total of three families (5 males and 1 female), and from 3 obligate carrier females. 12920343 2003
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE Electroretinographic findings in three family members with X-linked juvenile retinoschisis associated with a novel Pro192Thr mutation of the XLRS1 gene. 12457918 2003
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families. 12928282 2003
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis. 12417531 2002
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE Genetic findings identifying mutations in the XLRS1 gene will lead to earlier and more accurate diagnosis of X-linked juvenile retinoschisis. 12383832 2002
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 Biomarker disease MGD To gain further insight into the function of the retinoschisin protein and its role in the cellular pathology of RS, we have generated knockout mice deficient in Rs1h, the murine ortholog of the human RS1 gene. 11983912 2002
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE Eleven unrelated Japanese men (mean age; 24.9 +/- 7.6 years) who were clinically diagnosed with xlRS and molecularly confirmed as having XLRS1 mutations were investigated. 11292413 2001
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE To analyze Japanese patients clinically diagnosed as having XLRS formutational changes in the XLRS1 gene. 10636421 2000
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE The present study shows a heterogeneity of mutations in the XLRS1 gene and phenotypic variations in 14 Japanese patients with xlRS. 11035549 2000
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE X-Linked juvenile retinoschisis associated with a 4-base pair insertion at codon 55 of the XLRS1 gene. 10679210 2000
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene. 10922205 2000
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online. 10220153 1999
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE Severe juvenile retinoschisis associated with a 33-bps deletion in XLRS1 gene. 10454824 1999
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		0.800 GeneticVariation disease BEFREE Juvenile X-linked retinoschisis from XLRS1 Arg213Trp mutation with preservation of the electroretinogram scotopic b-wave. 10458173 1999