CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Disease: Muscle hypotonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204967
rs786204967
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Functional abilities in children and adults with the CDKL5 disorder. 27528505 2016
dbSNP: rs786204967
rs786204967
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy. 26708753 2016
dbSNP: rs786204967
rs786204967
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells. 24916645 2015
dbSNP: rs786204967
rs786204967
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients. 24564546 2014
dbSNP: rs786204967
rs786204967
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys. 25266480 2014
dbSNP: rs786204967
rs786204967
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. 22872100 2013
dbSNP: rs786204967
rs786204967
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR CDKL5 and ARX mutations in males with early-onset epilepsy. 23583054 2013
dbSNP: rs786204967
rs786204967
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease:
Muscle hypotonia 		C 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: rs786204967
rs786204967
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy. 22779007 2012
dbSNP: rs786204967
rs786204967
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. 22678952 2012
dbSNP: rs786204967
rs786204967
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR CDKL5-Related Disorders: From Clinical Description to Molecular Genetics. 22670135 2012
dbSNP: rs786204967
rs786204967
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity. 21775177 2011
dbSNP: rs786204967
rs786204967
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. 19471977 2009
dbSNP: rs786204967
rs786204967
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease:
Muscle hypotonia 		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
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. 19241098 2009
dbSNP: rs786204967
rs786204967
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR The three stages of epilepsy in patients with CDKL5 mutations. 18266744 2008
dbSNP: rs786204967
rs786204967
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. 15492925 2004