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: rs1057518203
rs1057518203
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1060501859
rs1060501859
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1060501860
rs1060501860
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs122460157
rs122460157
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs122460157
rs122460157
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs122460158
rs122460158
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs122460159
rs122460159
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR Clinical exome sequencing: results from 2819 samples reflecting 1000 families. 27848944 2017
dbSNP: rs122460159
rs122460159
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. 22678952 2012
dbSNP: rs122460159
rs122460159
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation 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
dbSNP: rs122460159
rs122460159
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR Somatic mosaicism of a CDKL5 mutation identified by next-generation sequencing. 25819767 2015
dbSNP: rs122460159
rs122460159
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. 19780792 2010
dbSNP: rs122460159
rs122460159
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. 17993579 2008
dbSNP: rs1555940536
rs1555940536
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555949009
rs1555949009
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555949009
rs1555949009
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555949011
rs1555949011
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		A 0.700 CausalMutation CLINVAR Targeted next generation sequencing: the diagnostic value in early-onset epileptic encephalopathy. 27734276 2017
dbSNP: rs1555949041
rs1555949041
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555949763
rs1555949763
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555950066
rs1555950066
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555950083
rs1555950083
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555950465
rs1555950465
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		TAGCG 0.700 CausalMutation CLINVAR
dbSNP: rs1555950468
rs1555950468
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555950494
rs1555950494
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555951991
rs1555951991
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555952015
rs1555952015
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.700 CausalMutation CLINVAR