CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Disease: Cyclin-dependent kinase-like 5 deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		0.200 GeneticVariation disease CLINVAR
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		0.200 CausalMutation disease CLINVAR CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. 15917271 2005
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		0.200 CausalMutation disease CLINVAR CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders. 16330482 2005
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		0.200 CausalMutation disease CLINVAR CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. 16611748 2006
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		0.200 CausalMutation disease CLINVAR Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. 17993579 2008
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		0.200 CausalMutation disease CLINVAR A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. 19161156 2009
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		0.200 CausalMutation disease CLINVAR Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. 19780792 2010
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		0.200 CausalMutation disease 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
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		0.200 CausalMutation disease CLINVAR Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males. 20602487 2010
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		0.200 CausalMutation disease 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
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		0.200 CausalMutation disease CLINVAR CDKL5 alterations lead to early epileptic encephalopathy in both genders. 21770923 2011
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		0.200 CausalMutation disease CLINVAR CDKL5-Related Disorders: From Clinical Description to Molecular Genetics. 22670135 2012
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		0.200 CausalMutation disease CLINVAR Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. 22678952 2012
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		0.200 CausalMutation disease CLINVAR What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy. 22779007 2012
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		0.200 CausalMutation disease CLINVAR The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. 22872100 2013
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		0.200 CausalMutation disease 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
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		0.200 CausalMutation disease CLINVAR Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice. 23236174 2012
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		0.200 CausalMutation disease CLINVAR De novo mutations in epileptic encephalopathies. 23934111 2013
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		0.200 CausalMutation disease CLINVAR Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients. 24564546 2014
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		0.200 CausalMutation disease CLINVAR Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys. 25266480 2014
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		0.200 CausalMutation disease CLINVAR Somatic mosaicism of a CDKL5 mutation identified by next-generation sequencing. 25819767 2015
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		0.200 CausalMutation disease CLINVAR Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy. 27187038 2016
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		0.200 CausalMutation disease CLINVAR Targeted next generation sequencing: the diagnostic value in early-onset epileptic encephalopathy. 27734276 2017
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		0.200 CausalMutation disease CLINVAR Clinical exome sequencing: results from 2819 samples reflecting 1000 families. 27848944 2017
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		0.200 CausalMutation disease CLINVAR High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders. 28837158 2018