| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio. | 28928363 | 2017 |
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|
T | 0.700 | CausalMutation | CLINVAR | Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly. | 27418539 | 2016 |
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|
T | 0.700 | CausalMutation | CLINVAR | TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function. | 26721934 | 2016 |
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|
T | 0.700 | CausalMutation | CLINVAR | Large-scale discovery of novel genetic causes of developmental disorders. | 25533962 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | Synaptic, transcriptional and chromatin genes disrupted in autism. | 25363760 | 2014 |
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|
T | 0.700 | CausalMutation | CLINVAR | Clinical significance of de novo and inherited copy-number variation. | 24038936 | 2013 |
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|
T | 0.700 | CausalMutation | CLINVAR | Diagnostic exome sequencing in persons with severe intellectual disability. | 23033978 | 2012 |
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|
T | 0.700 | CausalMutation | CLINVAR | De novo mutations revealed by whole-exome sequencing are strongly associated with autism. | 22495306 | 2012 |
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|
T | 0.700 | CausalMutation | CLINVAR | The multidomain protein Trio binds the LAR transmembrane tyrosine phosphatase, contains a protein kinase domain, and has separate rac-specific and rho-specific guanine nucleotide exchange factor domains. | 8643598 | 1996 |