DisGeNET - a database of gene-disease associations

CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs104894928

Entrez Id:	6247;6792
Gene Symbol:	RS1;CDKL5

RS1;CDKL5

CUI:	C3714753
Disease:

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.800

GeneticVariation

UNIPROT

X-linked retinoschisis in a female with a heterozygous RS1 missense mutation.

17304551

2007

dbSNP:

rs104894928

Entrez Id:	6247;6792
Gene Symbol:	RS1;CDKL5

RS1;CDKL5

CUI:	C3714753
Disease:

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.800

GeneticVariation

UNIPROT

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

19093009

2008

dbSNP:

rs104894928

Entrez Id:	6247;6792
Gene Symbol:	RS1;CDKL5

RS1;CDKL5

CUI:	C3714753
Disease:

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.800

GeneticVariation

UNIPROT

Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene.

9760195

1998

dbSNP:

rs104894928

Entrez Id:	6247;6792
Gene Symbol:	RS1;CDKL5

RS1;CDKL5

CUI:	C3714753
Disease:

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.800

GeneticVariation

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

dbSNP:

rs104894928

Entrez Id:	6247;6792
Gene Symbol:	RS1;CDKL5

RS1;CDKL5

CUI:	C3714753
Disease:

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.800

GeneticVariation

UNIPROT

Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.

17615541

2007

dbSNP:

rs104894928

Entrez Id:	6247;6792
Gene Symbol:	RS1;CDKL5

RS1;CDKL5

CUI:	C3714753
Disease:

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.800

GeneticVariation

UNIPROT

Positional cloning of the gene associated with X-linked juvenile retinoschisis.

9326935

1997

dbSNP:

rs104894928

Entrez Id:	6247;6792
Gene Symbol:	RS1;CDKL5

RS1;CDKL5

CUI:	C3714753
Disease:

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.800

GeneticVariation

UNIPROT

Unusual manifestations of x-linked retinoschisis: clinical profile and diagnostic evaluation.

17631851

2007

dbSNP:

rs104894928

Entrez Id:	6247;6792
Gene Symbol:	RS1;CDKL5

RS1;CDKL5

CUI:	C3714753
Disease:

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.800

CausalMutation

CLINVAR

dbSNP:

rs104894928

Entrez Id:	6247;6792
Gene Symbol:	RS1;CDKL5

RS1;CDKL5

CUI:	C3714753
Disease:

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.800

GeneticVariation

UNIPROT

Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland.

10234514

1999

dbSNP:

rs104894928

Entrez Id:	6247;6792
Gene Symbol:	RS1;CDKL5

RS1;CDKL5

CUI:	C3714753
Disease:

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.800

GeneticVariation

UNIPROT

Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis.

10079181

1999

dbSNP:

rs104894928

Entrez Id:	6247;6792
Gene Symbol:	RS1;CDKL5

RS1;CDKL5

CUI:	C3714753
Disease:

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.800

GeneticVariation

UNIPROT

Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.

10533068

1999

dbSNP:

rs104894928

Entrez Id:	6247;6792
Gene Symbol:	RS1;CDKL5

RS1;CDKL5

CUI:	C3714753
Disease:

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.800

GeneticVariation

UNIPROT

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

dbSNP:

rs104894928

Entrez Id:	6247;6792
Gene Symbol:	RS1;CDKL5

RS1;CDKL5

CUI:	C3714753
Disease:

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.800

GeneticVariation

UNIPROT

Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis.

10450864

1999

dbSNP:

rs104894928

Entrez Id:	6247;6792
Gene Symbol:	RS1;CDKL5

RS1;CDKL5

CUI:	C3714753
Disease:

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.800

GeneticVariation

UNIPROT

Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.

27798099

2016

dbSNP:

rs104894928

Entrez Id:	6247;6792
Gene Symbol:	RS1;CDKL5

RS1;CDKL5

CUI:	C0271091
Disease:

Retinoschisis, Juvenile, X-Linked

0.020

GeneticVariation

BEFREE

We determined the carrier status for the 214G > A mutation of the RS1 gene in 202 females belonging to a large RS founder pedigree.

11246454

1999

dbSNP:

rs104894928

Entrez Id:	6247;6792
Gene Symbol:	RS1;CDKL5

RS1;CDKL5

CUI:	C0271091
Disease:

Retinoschisis, Juvenile, X-Linked

0.020

GeneticVariation

BEFREE

The mutations in exon 4, 214G > A and 221G > T, are accountable for RS in Western Finland.

10234514

1999

dbSNP:

rs104894928

Entrez Id:	6247;6792
Gene Symbol:	RS1;CDKL5

RS1;CDKL5

CUI:	C0152439
Disease:

Retinoschisis

0.010

GeneticVariation

BEFREE

Clinical features of RS patients with both the Glu72Lys and Pro193Leu mutations indicate that a genotype-phenotype correlation is not recognized in RS.

9760195

1998

dbSNP:

rs104894929

Entrez Id:	6247;6792
Gene Symbol:	RS1;CDKL5

RS1;CDKL5

CUI:	C3714753
Disease:

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.800

GeneticVariation

UNIPROT

X-linked retinoschisis in a female with a heterozygous RS1 missense mutation.

17304551

2007

dbSNP:

rs104894929

Entrez Id:	6247;6792
Gene Symbol:	RS1;CDKL5

RS1;CDKL5

CUI:	C3714753
Disease:

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.800

GeneticVariation

UNIPROT

Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.

27798099

2016

dbSNP:

rs104894929

Entrez Id:	6247;6792
Gene Symbol:	RS1;CDKL5

RS1;CDKL5

CUI:	C3714753
Disease:

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.800

GeneticVariation

UNIPROT

Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.

10533068

1999

dbSNP:

rs104894929

Entrez Id:	6247;6792
Gene Symbol:	RS1;CDKL5

RS1;CDKL5

CUI:	C3714753
Disease:

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.800

GeneticVariation

UNIPROT

Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis.

10079181

1999

dbSNP:

rs104894929

Entrez Id:	6247;6792
Gene Symbol:	RS1;CDKL5

RS1;CDKL5

CUI:	C3714753
Disease:

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.800

GeneticVariation

UNIPROT

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

19093009

2008

dbSNP:

rs104894929

Entrez Id:	6247;6792
Gene Symbol:	RS1;CDKL5

RS1;CDKL5

CUI:	C3714753
Disease:

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.800

GeneticVariation

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

dbSNP:

rs104894929

Entrez Id:	6247;6792
Gene Symbol:	RS1;CDKL5

RS1;CDKL5

CUI:	C3714753
Disease:

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.800

GeneticVariation

UNIPROT

Positional cloning of the gene associated with X-linked juvenile retinoschisis.

9326935

1997

dbSNP:

rs104894929

Entrez Id:	6247;6792
Gene Symbol:	RS1;CDKL5

RS1;CDKL5

CUI:	C3714753
Disease:

RETINOSCHISIS 1, X-LINKED, JUVENILE

0.800

GeneticVariation

UNIPROT

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