| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. | 26639658 | 2016 |
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|
C | 0.700 | CausalMutation | CLINVAR | A family with axonal sensorimotor polyneuropathy with TUBB3 mutation. | 25482575 | 2015 |
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|
C | 0.700 | CausalMutation | CLINVAR | Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome. | 25559402 | 2015 |
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|
C | 0.700 | CausalMutation | CLINVAR | Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome. | 24612975 | 2014 |
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|
C | 0.700 | CausalMutation | CLINVAR | Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly. | 25059107 | 2014 |
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|
C | 0.700 | CausalMutation | CLINVAR | β-Tubulin mutations that cause severe neuropathies disrupt axonal transport. | 23503589 | 2013 |
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|
C | 0.700 | CausalMutation | CLINVAR | A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3. | 23378218 | 2013 |
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|
C | 0.700 | CausalMutation | CLINVAR | [The gene mutation screening of a family with congenital fibrosis of the extraocular muscles associated with corpus callosum agenesis]. | 24257358 | 2013 |
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|
C | 0.700 | CausalMutation | CLINVAR | Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. | 20074521 | 2010 |
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C | 0.700 | CausalMutation | CLINVAR | Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. | 20829227 | 2010 |