rs1555949009
|
Entrez Id: |
6792 |
Gene Symbol: |
CDKL5 |
CDKL5
|
Cyclin-dependent kinase-like 5 deficiency
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555949011
|
Entrez Id: |
6792 |
Gene Symbol: |
CDKL5 |
CDKL5
|
Cyclin-dependent kinase-like 5 deficiency
|
A |
0.700 |
CausalMutation |
CLINVAR |
Targeted next generation sequencing: the diagnostic value in early-onset epileptic encephalopathy.
|
27734276 |
2017 |
rs1555949041
|
Entrez Id: |
6792 |
Gene Symbol: |
CDKL5 |
CDKL5
|
Cyclin-dependent kinase-like 5 deficiency
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555949763
|
Entrez Id: |
6792 |
Gene Symbol: |
CDKL5 |
CDKL5
|
Cyclin-dependent kinase-like 5 deficiency
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555950066
|
Entrez Id: |
6792 |
Gene Symbol: |
CDKL5 |
CDKL5
|
Cyclin-dependent kinase-like 5 deficiency
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555950083
|
Entrez Id: |
6792 |
Gene Symbol: |
CDKL5 |
CDKL5
|
Cyclin-dependent kinase-like 5 deficiency
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555950465
|
Entrez Id: |
6792 |
Gene Symbol: |
CDKL5 |
CDKL5
|
Cyclin-dependent kinase-like 5 deficiency
|
TAGCG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555950468
|
Entrez Id: |
6792 |
Gene Symbol: |
CDKL5 |
CDKL5
|
Cyclin-dependent kinase-like 5 deficiency
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555950494
|
Entrez Id: |
6792 |
Gene Symbol: |
CDKL5 |
CDKL5
|
Cyclin-dependent kinase-like 5 deficiency
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555951141
|
Entrez Id: |
6792 |
Gene Symbol: |
CDKL5 |
CDKL5
|
X-linked infantile spasms
|
TC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555951954
|
Entrez Id: |
6792 |
Gene Symbol: |
CDKL5 |
CDKL5
|
Muscle hypotonia
|
G |
0.700 |
CausalMutation |
CLINVAR |
What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy.
|
22779007 |
2012 |
rs1555951954
|
Entrez Id: |
6792 |
Gene Symbol: |
CDKL5 |
CDKL5
|
Muscle hypotonia
|
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 |
rs1555951954
|
Entrez Id: |
6792 |
Gene Symbol: |
CDKL5 |
CDKL5
|
Muscle hypotonia
|
G |
0.700 |
CausalMutation |
CLINVAR |
Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.
|
25266480 |
2014 |
rs1555951954
|
Entrez Id: |
6792 |
Gene Symbol: |
CDKL5 |
CDKL5
|
Muscle hypotonia
|
G |
0.700 |
CausalMutation |
CLINVAR |
The three stages of epilepsy in patients with CDKL5 mutations.
|
18266744 |
2008 |
rs1555951954
|
Entrez Id: |
6792 |
Gene Symbol: |
CDKL5 |
CDKL5
|
Muscle hypotonia
|
G |
0.700 |
CausalMutation |
CLINVAR |
Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder.
|
19471977 |
2009 |
rs1555951954
|
Entrez Id: |
6792 |
Gene Symbol: |
CDKL5 |
CDKL5
|
Muscle hypotonia
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.
|
15492925 |
2004 |
rs1555951954
|
Entrez Id: |
6792 |
Gene Symbol: |
CDKL5 |
CDKL5
|
Muscle hypotonia
|
G |
0.700 |
CausalMutation |
CLINVAR |
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.
|
24916645 |
2015 |
rs1555951954
|
Entrez Id: |
6792 |
Gene Symbol: |
CDKL5 |
CDKL5
|
Muscle hypotonia
|
G |
0.700 |
CausalMutation |
CLINVAR |
CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.
|
22670135 |
2012 |
rs1555951954
|
Entrez Id: |
6792 |
Gene Symbol: |
CDKL5 |
CDKL5
|
Muscle hypotonia
|
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 |
rs1555951954
|
Entrez Id: |
6792 |
Gene Symbol: |
CDKL5 |
CDKL5
|
Muscle hypotonia
|
G |
0.700 |
CausalMutation |
CLINVAR |
CDKL5 and ARX mutations in males with early-onset epilepsy.
|
23583054 |
2013 |
rs1555951954
|
Entrez Id: |
6792 |
Gene Symbol: |
CDKL5 |
CDKL5
|
Muscle hypotonia
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity.
|
21775177 |
2011 |
rs1555951954
|
Entrez Id: |
6792 |
Gene Symbol: |
CDKL5 |
CDKL5
|
Muscle hypotonia
|
G |
0.700 |
CausalMutation |
CLINVAR |
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.
|
22872100 |
2013 |
rs1555951954
|
Entrez Id: |
6792 |
Gene Symbol: |
CDKL5 |
CDKL5
|
Muscle hypotonia
|
G |
0.700 |
CausalMutation |
CLINVAR |
Functional abilities in children and adults with the CDKL5 disorder.
|
27528505 |
2016 |
rs1555951954
|
Entrez Id: |
6792 |
Gene Symbol: |
CDKL5 |
CDKL5
|
Muscle hypotonia
|
G |
0.700 |
CausalMutation |
CLINVAR |
Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.
|
22678952 |
2012 |
rs1555951954
|
Entrez Id: |
6792 |
Gene Symbol: |
CDKL5 |
CDKL5
|
Muscle hypotonia
|
G |
0.700 |
CausalMutation |
CLINVAR |
Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes.
|
19241098 |
2009 |