DisGeNET - a database of gene-disease associations

CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221

Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs267608468

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:

rs267608493

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:

rs267608501

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:

rs267608511

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:

rs267608611

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:

rs61749700

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:

rs61749704

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

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:

rs866859766

Entrez Id:	6247;6792
Gene Symbol:	RS1;CDKL5

RS1;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:

rs267608468

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:

rs267608493

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:

rs267608501

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:

rs267608511

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:

rs267608611

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:

rs61749700

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:

rs61749704

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

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:

rs866859766

Entrez Id:	6247;6792
Gene Symbol:	RS1;CDKL5

RS1;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:

rs267608468

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:

rs267608493

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:

rs267608501

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:

rs267608511

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:

rs267608611

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:

rs61749700

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:

rs61749704

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