CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281865361
rs281865361
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE 		A 0.800 GeneticVariation CLINVAR Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. 20801516 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 Phenotypic expression of X-linked retinoschisis in Chinese families with mutations in the RS1 gene. 21701876 2011
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: rs281865355
rs281865355
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE 		T 0.800 GeneticVariation CLINVAR Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. 20061330 2010
dbSNP: rs281865361
rs281865361
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE 		A 0.800 GeneticVariation CLINVAR Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. 20061330 2010
dbSNP: rs61752060
rs61752060
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE 		C 0.800 GeneticVariation 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 		T 0.800 CausalMutation CLINVAR Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. 20061330 2010
dbSNP: rs61752159
rs61752159
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE 		T 0.800 GeneticVariation CLINVAR Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. 20061330 2010
dbSNP: rs61753174
rs61753174
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE 		A 0.800 GeneticVariation CLINVAR Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease. 20809529 2010
dbSNP: rs61753174
rs61753174
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE 		A 0.800 GeneticVariation CLINVAR Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. 20061330 2010
dbSNP: rs62645894
rs62645894
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: rs104894928
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: rs104894929
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: 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: rs104894932
rs104894932
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: rs104894933
rs104894933
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: rs104894934
rs104894934
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: rs281865355
rs281865355
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE 		T 0.800 GeneticVariation CLINVAR Molecular genetic characteristics of X-linked retinoschisis in Koreans. 19390641 2009
dbSNP: rs281865355
rs281865355
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: rs281865361
rs281865361
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE 		A 0.800 GeneticVariation CLINVAR Molecular genetic characteristics of X-linked retinoschisis in Koreans. 19390641 2009
dbSNP: rs281865361
rs281865361
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: rs61752060
rs61752060
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE 		C 0.800 GeneticVariation CLINVAR Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis. 19324861 2009
dbSNP: rs61752060
rs61752060
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: rs61752063
rs61752063
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: rs61752067
rs61752067
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