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: 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 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
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 Proteomic profiling of human intraschisis cavity fluid. 28450823 2017
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 Genetic analysis and clinical features of X-linked retinoschisis in Chinese patients. 28272453 2017
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 Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function. 27798099 2016
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 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
0.800 GeneticVariation UNIPROT Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function. 27798099 2016
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 Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function. 27798099 2016
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 Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function. 27798099 2016
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 Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function. 27798099 2016
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 Dramatic regression of macular and peripheral retinoschisis with dorzolamide 2 % in X-linked retinoschisis: a case report. 27246168 2016
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 Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function. 27798099 2016
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 Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function. 27798099 2016
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 Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function. 27798099 2016
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 Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function. 27798099 2016
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 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
0.800 GeneticVariation UNIPROT Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function. 27798099 2016
dbSNP: rs61752159
rs61752159
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: rs61753174
rs61753174
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: rs62645894
rs62645894
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: 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 Resolution of mid-peripheral schisis in x-linked retinoschisis with the use of dorzolamide. 23514609 2014
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 indicates distinct classes of missense variants with mild and severe XLRS phenotypes. 23847049 2013
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 A phenotype-genotype correlation study of X-linked retinoschisis. 23453514 2013
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 indicates distinct classes of missense variants with mild and severe XLRS phenotypes. 23847049 2013
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