Source: CLINVAR

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 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 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 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