Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype. | 26645395 | 2016 |
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|
0.800 | GeneticVariation | UNIPROT | NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype. | 26645395 | 2016 |
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|
0.800 | GeneticVariation | UNIPROT | NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype. | 25877835 | 2015 |
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|
0.800 | GeneticVariation | UNIPROT | NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype. | 25877835 | 2015 |
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|
0.800 | GeneticVariation | UNIPROT | Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. | 17052987 | 2007 |
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|
0.800 | GeneticVariation | UNIPROT | Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. | 17052987 | 2007 |
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|
0.800 | GeneticVariation | UNIPROT | The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy. | 14733962 | 2004 |
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|
0.800 | GeneticVariation | UNIPROT | The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy. | 14733962 | 2004 |
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|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR |