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: rs875989950
rs875989950
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		A 0.700 CausalMutation CLINVAR
dbSNP: rs875989880
rs875989880
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		GT 0.700 CausalMutation CLINVAR
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: rs863225289
rs863225289
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. 16611748 2006
dbSNP: rs786204991
rs786204991
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		G 0.700 CausalMutation CLINVAR
dbSNP: rs786204987
rs786204987
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs786204985
rs786204985
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		G 0.700 CausalMutation CLINVAR
dbSNP: rs786204983
rs786204983
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs786204982
rs786204982
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		TAA 0.700 CausalMutation CLINVAR
dbSNP: rs786204979
rs786204979
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		G 0.700 CausalMutation CLINVAR
dbSNP: rs786204978
rs786204978
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		G 0.700 CausalMutation CLINVAR
dbSNP: rs786204977
rs786204977
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		A 0.700 CausalMutation CLINVAR
dbSNP: rs786204976
rs786204976
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs786204974
rs786204974
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		TG 0.700 CausalMutation CLINVAR
dbSNP: rs786204973
rs786204973
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		G 0.700 CausalMutation CLINVAR
dbSNP: rs786204964
rs786204964
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		A 0.700 CausalMutation CLINVAR
dbSNP: rs757402424
rs757402424
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		C 0.700 GeneticVariation CLINVAR
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: 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: rs62643614
rs62643614
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		A 0.700 CausalMutation 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
dbSNP: rs62643608
rs62643608
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		C 0.700 CausalMutation CLINVAR
dbSNP: rs62641235
rs62641235
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		C 0.700 CausalMutation CLINVAR
dbSNP: rs61753251
rs61753251
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		C 0.700 CausalMutation CLINVAR
dbSNP: rs61753251
rs61753251
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs61749704
rs61749704
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR