CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs773760466
rs773760466
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		0.700 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
dbSNP: rs773760466
rs773760466
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		0.700 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
dbSNP: rs773760466
rs773760466
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		0.700 GeneticVariation UNIPROT Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients. 24564546 2014
dbSNP: rs773760466
rs773760466
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		0.700 GeneticVariation UNIPROT Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
dbSNP: rs773760466
rs773760466
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		0.700 GeneticVariation UNIPROT Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. 23662938 2013
dbSNP: rs773760466
rs773760466
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		0.700 GeneticVariation UNIPROT A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype. 19253388 2009
dbSNP: rs773760466
rs773760466
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		0.700 GeneticVariation UNIPROT Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. 19241098 2009
dbSNP: rs773760466
rs773760466
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		0.700 GeneticVariation UNIPROT CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. 18809835 2008
dbSNP: rs773760466
rs773760466
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		0.700 GeneticVariation UNIPROT Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. 17993579 2008
dbSNP: rs773760466
rs773760466
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		0.700 GeneticVariation UNIPROT Key clinical features to identify girls with CDKL5 mutations. 18790821 2008
dbSNP: rs773760466
rs773760466
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		0.700 GeneticVariation UNIPROT CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. 16611748 2006
dbSNP: rs773760466
rs773760466
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		0.700 GeneticVariation UNIPROT Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation. 16935860 2006
dbSNP: rs773760466
rs773760466
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		0.700 GeneticVariation UNIPROT Early onset seizures and Rett-like features associated with mutations in CDKL5. 16015284 2005
dbSNP: rs773760466
rs773760466
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		0.700 GeneticVariation UNIPROT CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. 15917271 2005
dbSNP: rs773760466
rs773760466
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		0.700 GeneticVariation UNIPROT CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. 15689447 2005
dbSNP: rs773760466
rs773760466
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		0.700 GeneticVariation UNIPROT Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. 15492925 2004
dbSNP: rs773760466
rs773760466
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		0.700 GeneticVariation UNIPROT Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. 15499549 2004
dbSNP: rs773760466
rs773760466
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		0.700 GeneticVariation UNIPROT Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. 12736870 2003