Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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T | 0.800 | CausalMutation | CLINVAR | An extended set of yeast-based functional assays accurately identifies human disease mutations. | 26975778 | 2016 |
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G | 0.800 | GeneticVariation | CLINVAR | Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. | 26257172 | 2015 |
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T | 0.800 | CausalMutation | CLINVAR | Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetases. | 26138142 | 2015 |
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G | 0.800 | CausalMutation | CLINVAR | Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. | 26257172 | 2015 |
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T | 0.800 | CausalMutation | CLINVAR | Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. | 26257172 | 2015 |
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|
G | 0.800 | CausalMutation | CLINVAR | Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy. | 19561293 | 2009 |
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T | 0.800 | CausalMutation | CLINVAR | Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy. | 19561293 | 2009 |
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|
0.800 | GeneticVariation | UNIPROT | Here we identify two heterozygous missense mutations (G41R and E196K) and one de novo deletion (153-156delVKQV) in tyrosyl-tRNA synthetase (YARS) in three unrelated families affected with DI-CMTC. | 16429158 | 2006 |
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T | 0.800 | CausalMutation | CLINVAR | Here we identify two heterozygous missense mutations (G41R and E196K) and one de novo deletion (153-156delVKQV) in tyrosyl-tRNA synthetase (YARS) in three unrelated families affected with DI-CMTC. | 16429158 | 2006 |
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G | 0.800 | CausalMutation | CLINVAR | Here we identify two heterozygous missense mutations (G41R and E196K) and one de novo deletion (153-156delVKQV) in tyrosyl-tRNA synthetase (YARS) in three unrelated families affected with DI-CMTC. | 16429158 | 2006 |
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T | 0.800 | CausalMutation | CLINVAR | Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35. | 14606043 | 2003 |