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: rs104894930
rs104894930
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: rs104894930
rs104894930
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE 		A 0.800 CausalMutation CLINVAR Detailed Morphological Changes of Foveoschisis in Patient with X-Linked Retinoschisis Detected by SD-OCT and Adaptive Optics Fundus Camera. 26356828 2015
dbSNP: rs104894930
rs104894930
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE 		A 0.800 CausalMutation CLINVAR Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. 20061330 2010
dbSNP: rs104894930
rs104894930
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: rs104894930
rs104894930
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE 		A 0.800 CausalMutation CLINVAR Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography. 18541843 2008
dbSNP: rs104894930
rs104894930
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: rs104894930
rs104894930
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: rs104894930
rs104894930
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: rs104894930
rs104894930
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE 		A 0.800 CausalMutation CLINVAR Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis. 17515881 2007
dbSNP: rs104894930
rs104894930
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: rs104894930
rs104894930
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE 		A 0.800 CausalMutation CLINVAR Identification of XLRS1 gene mutation (608C > T) in a Portuguese family with juvenile retinoschisis. 16167295 2005
dbSNP: rs104894930
rs104894930
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE 		A 0.800 CausalMutation CLINVAR 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: rs104894930
rs104894930
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE 		A 0.800 CausalMutation CLINVAR Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland. 10234514 1999
dbSNP: rs104894930
rs104894930
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: rs104894930
rs104894930
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: rs104894930
rs104894930
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: rs104894930
rs104894930
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: rs104894930
rs104894930
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: rs104894930
rs104894930
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE 		A 0.800 CausalMutation CLINVAR First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X linked juvenile retinoschisis. 10636740 1999
dbSNP: rs104894930
rs104894930
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE 		A 0.800 CausalMutation CLINVAR Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium. 9618178 1998
dbSNP: rs104894930
rs104894930
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: rs104894930
rs104894930
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