| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
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T | 0.700 | CausalMutation | CLINVAR | Bilateral frontoparietal polymicrogyria: a novel GPR56 mutation and an unusual phenotype. | 25642806 | 2015 |
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T | 0.700 | CausalMutation | CLINVAR | The adhesion G protein-coupled receptor GPR56 is a cell-autonomous regulator of oligodendrocyte development. | 25607655 | 2015 |
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T | 0.700 | CausalMutation | CLINVAR | Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning. | 24531968 | 2014 |
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T | 0.700 | CausalMutation | CLINVAR | Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria. | 23981349 | 2014 |
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T | 0.700 | CausalMutation | CLINVAR | Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms. | 21349848 | 2011 |
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T | 0.700 | CausalMutation | CLINVAR | The N terminus of the adhesion G protein-coupled receptor GPR56 controls receptor signaling activity. | 21708946 | 2011 |
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T | 0.700 | CausalMutation | CLINVAR | GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. | 20929962 | 2010 |
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T | 0.700 | CausalMutation | CLINVAR | Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations. | 19016831 | 2009 |
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T | 0.700 | CausalMutation | CLINVAR | Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. | 16240336 | 2005 |
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T | 0.700 | CausalMutation | CLINVAR | Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16. | 12730993 | 2003 |