CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.100 GeneticVariation disease CLINVAR Genetic analysis and clinical features of X-linked retinoschisis in Chinese patients. 28272453 2017
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.100 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
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.100 GeneticVariation disease CLINVAR Proteomic profiling of human intraschisis cavity fluid. 28450823 2017
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.100 GeneticVariation disease CLINVAR Dramatic regression of macular and peripheral retinoschisis with dorzolamide 2 % in X-linked retinoschisis: a case report. 27246168 2016
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.100 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.100 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
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.100 GeneticVariation disease CLINVAR Resolution of mid-peripheral schisis in x-linked retinoschisis with the use of dorzolamide. 23514609 2014
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.100 CausalMutation disease CLINVAR Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes. 23847049 2013
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.100 GeneticVariation disease CLINVAR A phenotype-genotype correlation study of X-linked retinoschisis. 23453514 2013
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.100 GeneticVariation disease CLINVAR Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes. 23847049 2013
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.100 CausalMutation disease CLINVAR Novel clinical manifestation of congenital X-linked retinoschisis. 22332228 2012
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.100 CausalMutation disease CLINVAR Phenotypic expression of X-linked retinoschisis in Chinese families with mutations in the RS1 gene. 21701876 2011
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.100 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
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.100 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
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.100 GeneticVariation disease CLINVAR Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease. 20809529 2010
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.100 GeneticVariation disease CLINVAR Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. 20061330 2010
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.100 CausalMutation disease CLINVAR Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. 20061330 2010
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.100 GeneticVariation disease CLINVAR Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin. 18834580 2009
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.100 CausalMutation disease CLINVAR Molecular genetic characteristics of X-linked retinoschisis in Koreans. 19390641 2009
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.100 GeneticVariation disease CLINVAR Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis. 19324861 2009
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.100 GeneticVariation disease CLINVAR Molecular genetic characteristics of X-linked retinoschisis in Koreans. 19390641 2009
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.100 CausalMutation disease CLINVAR Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin. 18834580 2009
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.100 GeneticVariation disease CLINVAR Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis. 19093009 2008
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.100 CausalMutation disease CLINVAR Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families. 18369700 2008
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.100 CausalMutation disease CLINVAR Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography. 18541843 2008