YARS1, tyrosyl-tRNA synthetase 1, 8565

N. diseases: 30; N. variants: 7
Disease: Charcot-Marie-Tooth Disease, Dominant Intermediate C ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1842237
Disease: Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Dominant Intermediate C 		0.700 CausalMutation disease CLINVAR An extended set of yeast-based functional assays accurately identifies human disease mutations. 26975778 2016
CUI: C1842237
Disease: Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Dominant Intermediate C 		0.700 GeneticVariation disease CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172 2015
CUI: C1842237
Disease: Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Dominant Intermediate C 		0.700 CausalMutation disease CLINVAR Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetases. 26138142 2015
CUI: C1842237
Disease: Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Dominant Intermediate C 		0.700 CausalMutation disease CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172 2015
CUI: C1842237
Disease: Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Dominant Intermediate C 		0.700 Biomarker disease GENOMICS_ENGLAND Thus, the DI-CMTC phenotype is not due to haploinsufficiency of aminoacylation activity, but most likely to a gain-of-function alteration of the mutant TyrRS or interference with an unknown function of the WT protein. 19561293 2009
CUI: C1842237
Disease: Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Dominant Intermediate C 		0.700 CausalMutation disease CLINVAR Thus, the DI-CMTC phenotype is not due to haploinsufficiency of aminoacylation activity, but most likely to a gain-of-function alteration of the mutant TyrRS or interference with an unknown function of the WT protein. 19561293 2009
CUI: C1842237
Disease: Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Dominant Intermediate C 		0.700 GermlineCausalMutation disease ORPHANET 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
CUI: C1842237
Disease: Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Dominant Intermediate C 		0.700 GeneticVariation disease 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
CUI: C1842237
Disease: Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Dominant Intermediate C 		0.700 CausalMutation disease 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
CUI: C1842237
Disease: Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Dominant Intermediate C 		0.700 Biomarker disease GENOMICS_ENGLAND 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
CUI: C1842237
Disease: Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Dominant Intermediate C 		0.700 CausalMutation disease CLINVAR Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35. 14606043 2003
CUI: C1842237
Disease: Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Dominant Intermediate C 		0.700 Biomarker disease CTD_human