DisGeNET - a database of gene-disease associations

Source: INFERRED

Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE ×

Gene: CDKL5 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	6792
Gene Symbol:	CDKL5

CDKL5

CUI:	C3714753
Disease:	RETINOSCHISIS 1, X-LINKED, JUVENILE

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.100

GeneticVariation

CLINVAR

Genetic analysis and clinical features of X-linked retinoschisis in Chinese patients.

28272453

2017

Entrez Id:	6792
Gene Symbol:	CDKL5

CDKL5

CUI:	C3714753
Disease:	RETINOSCHISIS 1, X-LINKED, JUVENILE

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.100

GeneticVariation

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:	6792
Gene Symbol:	CDKL5

CDKL5

CUI:	C3714753
Disease:	RETINOSCHISIS 1, X-LINKED, JUVENILE

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.100

GeneticVariation

CLINVAR

Proteomic profiling of human intraschisis cavity fluid.

28450823

2017

Entrez Id:	6792
Gene Symbol:	CDKL5

CDKL5

CUI:	C3714753
Disease:	RETINOSCHISIS 1, X-LINKED, JUVENILE

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.100

GeneticVariation

CLINVAR

Dramatic regression of macular and peripheral retinoschisis with dorzolamide 2 % in X-linked retinoschisis: a case report.

27246168

2016

Entrez Id:	6792
Gene Symbol:	CDKL5

CDKL5

CUI:	C3714753
Disease:	RETINOSCHISIS 1, X-LINKED, JUVENILE

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.100

GeneticVariation

CLINVAR

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

25525159

2015

Entrez Id:	6792
Gene Symbol:	CDKL5

CDKL5

CUI:	C3714753
Disease:	RETINOSCHISIS 1, X-LINKED, JUVENILE

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.100

CausalMutation

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:	6792
Gene Symbol:	CDKL5

CDKL5

CUI:	C3714753
Disease:	RETINOSCHISIS 1, X-LINKED, JUVENILE

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.100

GeneticVariation

CLINVAR

Resolution of mid-peripheral schisis in x-linked retinoschisis with the use of dorzolamide.

23514609

2014

Entrez Id:	6792
Gene Symbol:	CDKL5

CDKL5

CUI:	C3714753
Disease:	RETINOSCHISIS 1, X-LINKED, JUVENILE

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.100

CausalMutation

CLINVAR

Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.

23847049

2013

Entrez Id:	6792
Gene Symbol:	CDKL5

CDKL5

CUI:	C3714753
Disease:	RETINOSCHISIS 1, X-LINKED, JUVENILE

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.100

GeneticVariation

CLINVAR

A phenotype-genotype correlation study of X-linked retinoschisis.

23453514

2013

Entrez Id:	6792
Gene Symbol:	CDKL5

CDKL5

CUI:	C3714753
Disease:	RETINOSCHISIS 1, X-LINKED, JUVENILE

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.100

GeneticVariation

CLINVAR

Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.

23847049

2013

Entrez Id:	6792
Gene Symbol:	CDKL5

CDKL5

CUI:	C3714753
Disease:	RETINOSCHISIS 1, X-LINKED, JUVENILE

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.100

CausalMutation

CLINVAR

Novel clinical manifestation of congenital X-linked retinoschisis.

22332228

2012

Entrez Id:	6792
Gene Symbol:	CDKL5

CDKL5

CUI:	C3714753
Disease:	RETINOSCHISIS 1, X-LINKED, JUVENILE

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.100

CausalMutation

CLINVAR

Phenotypic expression of X-linked retinoschisis in Chinese families with mutations in the RS1 gene.

21701876

2011

Entrez Id:	6792
Gene Symbol:	CDKL5

CDKL5

CUI:	C3714753
Disease:	RETINOSCHISIS 1, X-LINKED, JUVENILE

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.100

GeneticVariation

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:	6792
Gene Symbol:	CDKL5

CDKL5

CUI:	C3714753
Disease:	RETINOSCHISIS 1, X-LINKED, JUVENILE

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.100

GeneticVariation

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:	6792
Gene Symbol:	CDKL5

CDKL5

CUI:	C3714753
Disease:	RETINOSCHISIS 1, X-LINKED, JUVENILE

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.100

GeneticVariation

CLINVAR

Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease.

20809529

2010

Entrez Id:	6792
Gene Symbol:	CDKL5

CDKL5

CUI:	C3714753
Disease:	RETINOSCHISIS 1, X-LINKED, JUVENILE

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.100

GeneticVariation

CLINVAR

Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.

20061330

2010

Entrez Id:	6792
Gene Symbol:	CDKL5

CDKL5

CUI:	C3714753
Disease:	RETINOSCHISIS 1, X-LINKED, JUVENILE

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.100

CausalMutation

CLINVAR

Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.

20061330

2010

Entrez Id:	6792
Gene Symbol:	CDKL5

CDKL5

CUI:	C3714753
Disease:	RETINOSCHISIS 1, X-LINKED, JUVENILE

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.100

GeneticVariation

CLINVAR

Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin.

18834580

2009

Entrez Id:	6792
Gene Symbol:	CDKL5

CDKL5

CUI:	C3714753
Disease:	RETINOSCHISIS 1, X-LINKED, JUVENILE

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.100

CausalMutation

CLINVAR

Molecular genetic characteristics of X-linked retinoschisis in Koreans.

19390641

2009

Entrez Id:	6792
Gene Symbol:	CDKL5

CDKL5

CUI:	C3714753
Disease:	RETINOSCHISIS 1, X-LINKED, JUVENILE

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.100

GeneticVariation

CLINVAR

Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis.

19324861

2009

Entrez Id:	6792
Gene Symbol:	CDKL5

CDKL5

CUI:	C3714753
Disease:	RETINOSCHISIS 1, X-LINKED, JUVENILE

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.100

GeneticVariation

CLINVAR

Molecular genetic characteristics of X-linked retinoschisis in Koreans.

19390641

2009

Entrez Id:	6792
Gene Symbol:	CDKL5

CDKL5

CUI:	C3714753
Disease:	RETINOSCHISIS 1, X-LINKED, JUVENILE

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.100

CausalMutation

CLINVAR

Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin.

18834580

2009

Entrez Id:	6792
Gene Symbol:	CDKL5

CDKL5

CUI:	C3714753
Disease:	RETINOSCHISIS 1, X-LINKED, JUVENILE

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.100

GeneticVariation

CLINVAR

Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.

19093009

2008

Entrez Id:	6792
Gene Symbol:	CDKL5

CDKL5

CUI:	C3714753
Disease:	RETINOSCHISIS 1, X-LINKED, JUVENILE

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.100

CausalMutation

CLINVAR

Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families.

18369700

2008

Entrez Id:	6792
Gene Symbol:	CDKL5

CDKL5

CUI:	C3714753
Disease:	RETINOSCHISIS 1, X-LINKED, JUVENILE

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.100

CausalMutation

CLINVAR

Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography.

18541843

2008