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 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 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 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 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 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 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 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 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 GeneticVariation disease CLINVAR