| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | GeneticVariation | CLINVAR | Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. | 26795593 | 2016 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Association Between Invisible Basal Ganglia and ZNF335 Mutations: A Case Report. | 27540107 | 2016 |
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|
CG | 0.700 | CausalMutation | CLINVAR | Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. | 26795593 | 2016 |
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|
CG | 0.700 | CausalMutation | CLINVAR | Association Between Invisible Basal Ganglia and ZNF335 Mutations: A Case Report. | 27540107 | 2016 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation. | 23178126 | 2012 |
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|
T | 0.700 | GeneticVariation | CLINVAR | De novo mutations revealed by whole-exome sequencing are strongly associated with autism. | 22495306 | 2012 |
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|
CG | 0.700 | CausalMutation | CLINVAR | De novo mutations revealed by whole-exome sequencing are strongly associated with autism. | 22495306 | 2012 |
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|
CG | 0.700 | CausalMutation | CLINVAR | Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation. | 23178126 | 2012 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Identification and characterization of a novel nuclear protein complex involved in nuclear hormone receptor-mediated gene regulation. | 19131338 | 2009 |
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|
CG | 0.700 | CausalMutation | CLINVAR | Identification and characterization of a novel nuclear protein complex involved in nuclear hormone receptor-mediated gene regulation. | 19131338 | 2009 |