CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61752068
rs61752068
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: rs61752068
rs61752068
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE 		T 0.800 CausalMutation CLINVAR Novel clinical manifestation of congenital X-linked retinoschisis. 22332228 2012
dbSNP: rs61752068
rs61752068
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE 		T 0.800 CausalMutation CLINVAR Phenotypic expression of X-linked retinoschisis in Chinese families with mutations in the RS1 gene. 21701876 2011
dbSNP: rs61752068
rs61752068
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE 		T 0.800 CausalMutation CLINVAR Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. 20061330 2010
dbSNP: rs61752068
rs61752068
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: rs61752068
rs61752068
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE 		T 0.800 CausalMutation CLINVAR Molecular genetic characteristics of X-linked retinoschisis in Koreans. 19390641 2009
dbSNP: rs61752068
rs61752068
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE 		T 0.800 CausalMutation CLINVAR Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families. 18369700 2008
dbSNP: rs61752068
rs61752068
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE 		T 0.800 CausalMutation CLINVAR ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT. 17987333 2008
dbSNP: rs61752068
rs61752068
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: rs61752068
rs61752068
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: rs61752068
rs61752068
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE 		T 0.800 CausalMutation CLINVAR Novel phenotypic and genotypic findings in X-linked retinoschisis. 17296904 2007
dbSNP: rs61752068
rs61752068
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE 		T 0.800 CausalMutation CLINVAR Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene. 17615541 2007
dbSNP: rs61752068
rs61752068
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: rs61752068
rs61752068
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE 		T 0.800 CausalMutation CLINVAR X-linked retinoschisis in a female with a heterozygous RS1 missense mutation. 17304551 2007
dbSNP: rs61752068
rs61752068
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: rs61752068
rs61752068
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE 		T 0.800 CausalMutation CLINVAR X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients. 15937075 2005
dbSNP: rs61752068
rs61752068
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE 		T 0.800 CausalMutation CLINVAR Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia. 15932525 2005
dbSNP: rs61752068
rs61752068
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE 		T 0.800 CausalMutation CLINVAR Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families. 12928282 2003
dbSNP: rs61752068
rs61752068
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: rs61752068
rs61752068
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE 		T 0.800 CausalMutation CLINVAR [A case of juvenile retinoschisis diagnosed by analysis of the XLRS 1 gene]. 10589241 1999
dbSNP: rs61752068
rs61752068
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE 		T 0.800 CausalMutation CLINVAR Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change. 10533068 1999
dbSNP: rs61752068
rs61752068
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: rs61752068
rs61752068
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: rs61752068
rs61752068
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: rs61752068
rs61752068
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