Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | GeneticVariation | CLINVAR | Whole exome sequencing in patients with white matter abnormalities. | 27159321 | 2016 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Characteristics of early MRI in children and adolescents with vanishing white matter. | 22430157 | 2012 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes. | 21560189 | 2011 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Genetic and clinical heterogeneity in eIF2B-related disorder. | 18263758 | 2008 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Identification of ten novel mutations in patients with eIF2B-related disorders. | 15776425 | 2005 |
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|
T | 0.700 | GeneticVariation | CLINVAR | eIF2B-related disorders: antenatal onset and involvement of multiple organs. | 14566705 | 2003 |