Gene: CDKL5 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 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 The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. 22872100

2013
dbSNP: rs786204963
rs786204963
CDKL5
C 0.700 GeneticVariation CLINVAR Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients. 24564546

2014
dbSNP: rs786204963
rs786204963
CDKL5
C 0.700 GeneticVariation CLINVAR CDKL5 and ARX mutations in males with early-onset epilepsy. 23583054

2013
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: 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 GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells. 24916645

2015
dbSNP: rs786204963
rs786204963
CDKL5
C 0.700 GeneticVariation CLINVAR Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy. 26708753

2016
dbSNP: rs786204963
rs786204963
CDKL5
C 0.700 GeneticVariation CLINVAR Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys. 25266480

2014
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 Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene. 23151060

2013
dbSNP: rs786204963
rs786204963
CDKL5
C 0.700 GeneticVariation CLINVAR Functional abilities in children and adults with the CDKL5 disorder. 27528505

2016
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: rs786204963
rs786204963
CDKL5
C 0.700 GeneticVariation CLINVAR The three stages of epilepsy in patients with CDKL5 mutations. 18266744

2008
dbSNP: rs786204963
rs786204963
CDKL5
C 0.700 GeneticVariation CLINVAR CDKL5-Related Disorders: From Clinical Description to Molecular Genetics. 22670135

2012
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: 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 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 Functional abilities in children and adults with the CDKL5 disorder. 27528505

2016
dbSNP: rs1555951954
rs1555951954
CDKL5
G 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 Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene. 23151060

2013
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: rs1555951954
rs1555951954
CDKL5
G 0.700 CausalMutation CLINVAR CDKL5 and ARX mutations in males with early-onset epilepsy. 23583054

2013
dbSNP: rs1555951954
rs1555951954
CDKL5
G 0.700 CausalMutation CLINVAR Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy. 26708753

2016