Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Zebrafish as a Model to Investigate Dynamin 2-Related Diseases. | 26842864 | 2016 |
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|
A | 0.700 | CausalMutation | CLINVAR | DNM2 mutations in Chinese Han patients with centronuclear myopathy. | 26908122 | 2016 |
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|
A | 0.700 | CausalMutation | CLINVAR | Clinical, pathological, and genetic features of dynamin-2-related centronuclear myopathy in China. | 25501959 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort. | 25957634 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | Clinical and Pathological Features of Korean Patients with DNM2-Related Centronuclear Myopathy. | 24465259 | 2014 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. | 22396310 | 2012 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy. | 22096584 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. | 20227276 | 2010 |