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: rs786204990
rs786204990
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C2748910
Disease:
Rett Syndrome, Atypical 		TTTTTA 0.700 CausalMutation CLINVAR
dbSNP: rs786204974
rs786204974
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		TG 0.700 CausalMutation CLINVAR
dbSNP: rs1555951141
rs1555951141
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4552072
Disease:
X-linked infantile spasms 		TC 0.700 CausalMutation CLINVAR
dbSNP: rs267608566
rs267608566
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		TC 0.700 CausalMutation CLINVAR
dbSNP: rs1555950465
rs1555950465
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		TAGCG 0.700 CausalMutation CLINVAR
dbSNP: rs786204982
rs786204982
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		TAA 0.700 CausalMutation CLINVAR
dbSNP: rs267608497
rs267608497
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		TA 0.700 CausalMutation CLINVAR
dbSNP: rs104894928
rs104894928
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE 		T 0.800 CausalMutation CLINVAR
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 		T 0.800 GeneticVariation CLINVAR Unusual manifestations of x-linked retinoschisis: clinical profile and diagnostic evaluation. 17631851 2007
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: 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 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 		T 0.800 GeneticVariation CLINVAR Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium. 9618178 1998
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: 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: 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 Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium. 9618178 1998
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 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 Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene. 9760195 1998
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 		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 [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 		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