Gene: CDKL5 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555951954
rs1555951954
CDKL5
G 0.700 CausalMutation CLINVAR Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. 15492925

2004
dbSNP: rs786204963
rs786204963
CDKL5
C 0.700 GeneticVariation CLINVAR Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. 15492925

2004
dbSNP: rs786204967
rs786204967
CDKL5
C 0.700 CausalMutation CLINVAR Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. 15492925

2004
dbSNP: rs1555951954
rs1555951954
CDKL5
G 0.700 CausalMutation CLINVAR The three stages of epilepsy in patients with CDKL5 mutations. 18266744

2008
dbSNP: rs786204963
rs786204963
CDKL5
C 0.700 GeneticVariation CLINVAR The three stages of epilepsy in patients with CDKL5 mutations. 18266744

2008
dbSNP: rs786204967
rs786204967
CDKL5
C 0.700 CausalMutation CLINVAR The three stages of epilepsy in patients with CDKL5 mutations. 18266744

2008
dbSNP: rs1555951954
rs1555951954
CDKL5
G 0.700 CausalMutation CLINVAR Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. 19471977

2009
dbSNP: rs1555951954
rs1555951954
CDKL5
G 0.700 CausalMutation CLINVAR Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. 19241098

2009
dbSNP: rs1555951954
rs1555951954
CDKL5
G 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: rs786204963
rs786204963
CDKL5
C 0.700 GeneticVariation CLINVAR Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. 19241098

2009
dbSNP: rs786204963
rs786204963
CDKL5
C 0.700 GeneticVariation CLINVAR Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. 19471977

2009
dbSNP: rs786204963
rs786204963
CDKL5
C 0.700 GeneticVariation 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: rs786204967
rs786204967
CDKL5
C 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: rs786204967
rs786204967
CDKL5
C 0.700 CausalMutation CLINVAR Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. 19241098

2009
dbSNP: rs786204967
rs786204967
CDKL5
C 0.700 CausalMutation CLINVAR Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. 19471977

2009
dbSNP: rs1555951954
rs1555951954
CDKL5
G 0.700 CausalMutation CLINVAR Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity. 21775177

2011
dbSNP: rs786204963
rs786204963
CDKL5
C 0.700 GeneticVariation CLINVAR Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity. 21775177

2011
dbSNP: rs786204967
rs786204967
CDKL5
C 0.700 CausalMutation CLINVAR Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity. 21775177

2011
dbSNP: rs1555951954
rs1555951954
CDKL5
G 0.700 CausalMutation CLINVAR Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. 22678952

2012
dbSNP: rs1555951954
rs1555951954
CDKL5
G 0.700 CausalMutation CLINVAR What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy. 22779007

2012
dbSNP: rs1555951954
rs1555951954
CDKL5
G 0.700 CausalMutation CLINVAR CDKL5-Related Disorders: From Clinical Description to Molecular Genetics. 22670135

2012
dbSNP: rs786204963
rs786204963
CDKL5
C 0.700 GeneticVariation CLINVAR What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy. 22779007

2012
dbSNP: rs786204963
rs786204963
CDKL5
C 0.700 GeneticVariation CLINVAR Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. 22678952

2012
dbSNP: rs786204963
rs786204963
CDKL5
C 0.700 GeneticVariation CLINVAR CDKL5-Related Disorders: From Clinical Description to Molecular Genetics. 22670135

2012
dbSNP: rs786204967
rs786204967
CDKL5
C 0.700 CausalMutation CLINVAR Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. 22678952

2012