| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders. | 28837158 | 2018 |
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|
A | 0.700 | CausalMutation | CLINVAR | Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients. | 24564546 | 2014 |
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|
A | 0.700 | CausalMutation | CLINVAR | Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys. | 25266480 | 2014 |
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|
A | 0.700 | CausalMutation | CLINVAR | Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice. | 23236174 | 2012 |
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|
A | 0.700 | CausalMutation | CLINVAR | What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy. | 22779007 | 2012 |
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|
A | 0.700 | CausalMutation | CLINVAR | Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. | 22678952 | 2012 |
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|
A | 0.700 | CausalMutation | CLINVAR | CDKL5 alterations lead to early epileptic encephalopathy in both genders. | 21770923 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males. | 20602487 | 2010 |
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|
A | 0.700 | CausalMutation | CLINVAR | CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders. | 16330482 | 2005 |
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|
C | 0.700 | CausalMutation | CLINVAR |