Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.080 | GeneticVariation | disease | BEFREE | Dominant mutations cause the disease, and studies of CMT disease-causing mutant glycyl-tRNA synthetase (GlyRS) and tyrosyl-tRNA synthetase (TyrRS) showed their mutations create neomorphic structures consistent with a gain-of-function mechanism. | 31501329 | 2019 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Pharmacological inhibition of TyrRS nuclear entry with embelin reduces, whereas genetic nuclear exclusion of mutant TyrRS prevents hallmark phenotypes of CMT in the Drosophila model. | 31695036 | 2019 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Mutations in YARS have been previously associated with an autosomal dominant form of Charcot-Marie-Tooth (CMT); our findings suggest the disease spectrum associated with YARS dysregulation is broader than peripheral neuropathy. | 27633801 | 2017 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Expression of CMT-mutant tyrosyl-tRNA synthetase also impairs translation, suggesting a common pathogenic mechanism. | 26138142 | 2015 | ||||
|
0.080 | Biomarker | disease | BEFREE | Their features recapitulated several hallmarks of CMT pathophysiology and were similar to the phenotypes identified in our previously described Drosophila model of YARS-associated neuropathy. | 24807208 | 2014 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Dominant Intermediate Charcot-Marie-Tooth disorder is not due to a catalytic defect in tyrosyl-tRNA synthetase. | 21732632 | 2011 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | These additional functions may explain why dominant mutations in glycyl-tRNA synthetase (GlyRS) and tyrosyl-tRNA synthetase cause Charcot-Marie-Tooth (CMT) disease, the most common heritable disease of the peripheral nervous system. | 17545306 | 2007 | ||||
|
0.080 | Biomarker | disease | BEFREE | YARS is the second aminoacyl-tRNA synthetase found to be involved in CMT, thereby linking protein-synthesizing complexes with neurodegeneration. | 16429158 | 2006 |