CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Disease: Cyclin-dependent kinase-like 5 deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62653623
rs62653623
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		0.710 GeneticVariation BEFREE Finally, we showed that acute treatment with the GluA2-lacking AMPAR blocker IEM-1460 decreased AMPAR currents, and rescued social deficits, working memory impairments, and seizure behavior latency in R59X mice.<b>SIGNIFICANCE STATEMENT</b> CDKL5 deficiency disorder (CDD) is a rare disease marked by autistic-like behaviors, intellectual disability, and seizures. 30952813 2019
dbSNP: rs62653623
rs62653623
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.710 CausalMutation CLINVAR
dbSNP: rs1555955290
rs1555955290
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		C 0.700 CausalMutation CLINVAR Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizures. 29444904 2018
dbSNP: rs267606715
rs267606715
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		A 0.700 CausalMutation CLINVAR High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders. 28837158 2018
dbSNP: rs122460159
rs122460159
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR Clinical exome sequencing: results from 2819 samples reflecting 1000 families. 27848944 2017
dbSNP: rs1555949011
rs1555949011
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		A 0.700 CausalMutation CLINVAR Targeted next generation sequencing: the diagnostic value in early-onset epileptic encephalopathy. 27734276 2017
dbSNP: rs1569215629
rs1569215629
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		A 0.700 CausalMutation CLINVAR Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy. 27187038 2016
dbSNP: rs122460159
rs122460159
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR Somatic mosaicism of a CDKL5 mutation identified by next-generation sequencing. 25819767 2015
dbSNP: rs267606715
rs267606715
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		A 0.700 CausalMutation CLINVAR Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients. 24564546 2014
dbSNP: rs267606715
rs267606715
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		A 0.700 CausalMutation CLINVAR Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys. 25266480 2014
dbSNP: rs1569213054
rs1569213054
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. 22872100 2013
dbSNP: rs1569215629
rs1569215629
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		A 0.700 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111 2013
dbSNP: rs863225290
rs863225290
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		G 0.700 CausalMutation CLINVAR The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. 22872100 2013
dbSNP: rs122460159
rs122460159
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. 22678952 2012
dbSNP: rs267606715
rs267606715
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		A 0.700 CausalMutation CLINVAR Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice. 23236174 2012
dbSNP: rs267606715
rs267606715
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		A 0.700 CausalMutation CLINVAR What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy. 22779007 2012
dbSNP: rs267606715
rs267606715
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		A 0.700 CausalMutation CLINVAR Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. 22678952 2012
dbSNP: rs267608511
rs267608511
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		C 0.700 CausalMutation CLINVAR CDKL5-Related Disorders: From Clinical Description to Molecular Genetics. 22670135 2012
dbSNP: rs267608511
rs267608511
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		C 0.700 CausalMutation CLINVAR CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons. 22922712 2012
dbSNP: rs1569215594
rs1569215594
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		G 0.700 CausalMutation CLINVAR Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life. 21482751 2011
dbSNP: rs267606715
rs267606715
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		A 0.700 CausalMutation CLINVAR CDKL5 alterations lead to early epileptic encephalopathy in both genders. 21770923 2011
dbSNP: rs122460159
rs122460159
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. 19780792 2010
dbSNP: rs267606715
rs267606715
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		A 0.700 CausalMutation CLINVAR Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males. 20602487 2010
dbSNP: rs122460159
rs122460159
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. 19793311 2009
dbSNP: rs267608395
rs267608395
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. 19161156 2009