Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.110 CausalMutation CLINVAR Functional abilities in children and adults with the CDKL5 disorder. 27528505

2016

Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.110 CausalMutation CLINVAR Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy. 26708753

2016

Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.110 GeneticVariation CLINVAR Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy. 26708753

2016

Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.110 GeneticVariation CLINVAR Functional abilities in children and adults with the CDKL5 disorder. 27528505

2016

Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.110 CausalMutation CLINVAR GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells. 24916645

2015

Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.110 GeneticVariation CLINVAR GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells. 24916645

2015

Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.110 CausalMutation CLINVAR Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys. 25266480

2014

Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.110 GeneticVariation CLINVAR Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients. 24564546

2014

Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.110 CausalMutation CLINVAR Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients. 24564546

2014

Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.110 GeneticVariation CLINVAR Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys. 25266480

2014

Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.110 GeneticVariation CLINVAR Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene. 23151060

2013

Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.110 CausalMutation CLINVAR CDKL5 and ARX mutations in males with early-onset epilepsy. 23583054

2013

Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.110 GeneticVariation CLINVAR CDKL5 and ARX mutations in males with early-onset epilepsy. 23583054

2013

Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.110 GeneticVariation CLINVAR The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. 22872100

2013

Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.110 CausalMutation CLINVAR Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene. 23151060

2013

Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.110 CausalMutation CLINVAR The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. 22872100

2013

Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.110 CausalMutation CLINVAR CDKL5-Related Disorders: From Clinical Description to Molecular Genetics. 22670135

2012

Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.110 CausalMutation CLINVAR What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy. 22779007

2012

Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.110 GeneticVariation CLINVAR What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy. 22779007

2012

Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.110 CausalMutation CLINVAR Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. 22678952

2012

Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.110 GeneticVariation CLINVAR Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. 22678952

2012

Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.110 GeneticVariation CLINVAR CDKL5-Related Disorders: From Clinical Description to Molecular Genetics. 22670135

2012

Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.110 GeneticVariation CLINVAR Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity. 21775177

2011

Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.110 CausalMutation CLINVAR Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity. 21775177

2011

Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.110 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