| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GeneticVariation | UNIPROT | Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations. | 28144995 | 2017 |
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0.700 | GeneticVariation | UNIPROT | Characterization of Mutants of Human Small Heat Shock Protein HspB1 Carrying Replacements in the N-Terminal Domain and Associated with Hereditary Motor Neuron Diseases. | 25965061 | 2015 |
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0.700 | GeneticVariation | UNIPROT | Structure and properties of G84R and L99M mutants of human small heat shock protein HspB1 correlating with motor neuropathy. | 23948568 | 2013 |
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0.700 | GeneticVariation | UNIPROT | Physico-chemical properties of R140G and K141Q mutants of human small heat shock protein HspB1 associated with hereditary peripheral neuropathies. | 23643870 | 2013 |
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0.700 | GeneticVariation | UNIPROT | Charcot-Marie-Tooth causing HSPB1 mutations increase Cdk5-mediated phosphorylation of neurofilaments. | 23728742 | 2013 |
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|
0.700 | GeneticVariation | UNIPROT | HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients. | 22176143 | 2011 |
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0.700 | GeneticVariation | UNIPROT | Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy. | 20178975 | 2010 |
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|
0.700 | GeneticVariation | UNIPROT | A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype. | 20870250 | 2010 |
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0.700 | GeneticVariation | UNIPROT | A clinical phenotype of distal hereditary motor neuronopathy type II with a novel HSPB1 mutation. | 18952241 | 2009 |
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0.700 | GeneticVariation | UNIPROT | Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2. | 18832141 | 2008 |
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0.700 | GeneticVariation | UNIPROT | Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. | 15122254 | 2004 |