Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6247
Gene Symbol: RS1
RS1 		0.810 GeneticVariation disease CLINVAR Proteomic profiling of human intraschisis cavity fluid. 28450823 2017
Entrez Id: 6247
Gene Symbol: RS1
RS1 		0.810 GeneticVariation disease CLINVAR Genetic analysis and clinical features of X-linked retinoschisis in Chinese patients. 28272453 2017
Entrez Id: 6247
Gene Symbol: RS1
RS1 		0.810 GeneticVariation disease CLINVAR Segmented swept source optical coherence tomography angiography assessment of the perifoveal vasculature in patients with X-linked juvenile retinoschisis: a serial case report. 29081674 2017
Entrez Id: 6247
Gene Symbol: RS1
RS1 		0.810 GeneticVariation disease CLINVAR Dramatic regression of macular and peripheral retinoschisis with dorzolamide 2 % in X-linked retinoschisis: a case report. 27246168 2016
Entrez Id: 6247
Gene Symbol: RS1
RS1 		0.810 GeneticVariation disease UNIPROT Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function. 27798099 2016
Entrez Id: 6247
Gene Symbol: RS1
RS1 		0.810 CausalMutation disease CLINVAR Detailed Morphological Changes of Foveoschisis in Patient with X-Linked Retinoschisis Detected by SD-OCT and Adaptive Optics Fundus Camera. 26356828 2015
Entrez Id: 6247
Gene Symbol: RS1
RS1 		0.810 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Entrez Id: 6247
Gene Symbol: RS1
RS1 		0.810 GeneticVariation disease CLINVAR Resolution of mid-peripheral schisis in x-linked retinoschisis with the use of dorzolamide. 23514609 2014
Entrez Id: 6247
Gene Symbol: RS1
RS1 		0.810 GeneticVariation disease CLINVAR A phenotype-genotype correlation study of X-linked retinoschisis. 23453514 2013
Entrez Id: 6247
Gene Symbol: RS1
RS1 		0.810 CausalMutation disease CLINVAR Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes. 23847049 2013
Entrez Id: 6247
Gene Symbol: RS1
RS1 		0.810 GeneticVariation disease CLINVAR Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes. 23847049 2013
Entrez Id: 6247
Gene Symbol: RS1
RS1 		0.810 CausalMutation disease CLINVAR Novel clinical manifestation of congenital X-linked retinoschisis. 22332228 2012
Entrez Id: 6247
Gene Symbol: RS1
RS1 		0.810 GeneticVariation disease CLINVAR Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. 20801516 2011
Entrez Id: 6247
Gene Symbol: RS1
RS1 		0.810 GeneticVariation disease CLINVAR X-linked retinoschisis: RS1 mutation severity and age affect the ERG phenotype in a cohort of 68 affected male subjects. 22039241 2011
Entrez Id: 6247
Gene Symbol: RS1
RS1 		0.810 CausalMutation disease CLINVAR Phenotypic expression of X-linked retinoschisis in Chinese families with mutations in the RS1 gene. 21701876 2011
Entrez Id: 6247
Gene Symbol: RS1
RS1 		0.810 GeneticVariation disease CLINVAR Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease. 20809529 2010
Entrez Id: 6247
Gene Symbol: RS1
RS1 		0.810 CausalMutation disease CLINVAR Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. 20061330 2010
Entrez Id: 6247
Gene Symbol: RS1
RS1 		0.810 GeneticVariation disease CLINVAR Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. 20061330 2010
Entrez Id: 6247
Gene Symbol: RS1
RS1 		0.810 GeneticVariation disease CLINVAR Molecular genetic characteristics of X-linked retinoschisis in Koreans. 19390641 2009
Entrez Id: 6247
Gene Symbol: RS1
RS1 		0.810 GeneticVariation disease CLINVAR Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis. 19324861 2009
Entrez Id: 6247
Gene Symbol: RS1
RS1 		0.810 CausalMutation disease CLINVAR Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin. 18834580 2009
Entrez Id: 6247
Gene Symbol: RS1
RS1 		0.810 CausalMutation disease CLINVAR Molecular genetic characteristics of X-linked retinoschisis in Koreans. 19390641 2009
Entrez Id: 6247
Gene Symbol: RS1
RS1 		0.810 GeneticVariation disease UNIPROT Wild-type and missense mutants of retinoschisin co-assemble resulting in either intracellular retention or incorrect assembly of the functionally active octamer. 19849666 2009
Entrez Id: 6247
Gene Symbol: RS1
RS1 		0.810 GeneticVariation disease CLINVAR Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin. 18834580 2009
Entrez Id: 6247
Gene Symbol: RS1
RS1 		0.810 CausalMutation disease CLINVAR Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography. 18541843 2008