| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness. | 15099592 | 2004 |
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|
0.800 | GeneticVariation | UNIPROT | A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness. | 15099592 | 2004 |
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|
0.800 | GeneticVariation | UNIPROT | Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene. | 12578939 | 2003 |
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|
0.800 | GeneticVariation | UNIPROT | Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene. | 12578939 | 2003 |
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|
0.800 | GeneticVariation | UNIPROT | Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. | 11835375 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. | 11835375 | 2002 |
||||
|
0.800 | GeneticVariation | UNIPROT | A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. | 10330345 | 1999 |
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|
0.800 | GeneticVariation | UNIPROT | A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. | 10330345 | 1999 |
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|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.700 | GeneticVariation | UNIPROT |