Source: INFERRED

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 Biomarker HPO

Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 CausalMutation CLINVAR Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. 15492925

2004
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 GeneticVariation CLINVAR Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. 15492925

2004
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 GeneticVariation CLINVAR The three stages of epilepsy in patients with CDKL5 mutations. 18266744

2008
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 CausalMutation CLINVAR The three stages of epilepsy in patients with CDKL5 mutations. 18266744

2008
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
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 CausalMutation CLINVAR Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. 19241098

2009
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 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
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 GeneticVariation CLINVAR Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. 19241098

2009
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 GeneticVariation CLINVAR Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. 19471977

2009
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 CausalMutation CLINVAR Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. 19471977

2009
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 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 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