Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
CG | 0.700 | CausalMutation | CLINVAR | The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population. | 27527380 | 2017 |
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|
C | 0.700 | CausalMutation | CLINVAR | The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population. | 27527380 | 2017 |
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|
CG | 0.700 | CausalMutation | CLINVAR | [Genotype and phenotype of female Dravet syndrome with PCDH19 mutations]. | 27143072 | 2016 |
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|
C | 0.700 | CausalMutation | CLINVAR | Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders. | 23334464 | 2013 |
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|
CG | 0.700 | CausalMutation | CLINVAR | Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders. | 23334464 | 2013 |
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|
CG | 0.700 | CausalMutation | CLINVAR | PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder. | 22267240 | 2012 |
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|
CG | 0.700 | CausalMutation | CLINVAR | Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy. | 22946748 | 2012 |
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|
CG | 0.700 | CausalMutation | CLINVAR | X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. | 18469813 | 2008 |