MARS1, methionyl-tRNA synthetase 1, 4141

N. diseases: 66; N. variants: 11
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4084821
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U 		0.720 GeneticVariation disease BEFREE Whole-exome sequencing reveals a novel missense mutation in the MARS gene related to a rare Charcot-Marie-Tooth neuropathy type 2U. 29582526 2018
CUI: C4084821
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U 		0.720 GeneticVariation disease BEFREE Heterozygous MARS mutations have been reported to cause Charcot-Marie-Tooth disease, axonal, type 2U (CMT2U). 28148924 2017
CUI: C4084821
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U 		0.720 GeneticVariation disease UNIPROT Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot-Marie-Tooth neuropathy. 24354524 2014
CUI: C4084821
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U 		0.720 GeneticVariation disease UNIPROT Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. 23729695 2013
CUI: C4084821
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U 		0.720 GermlineCausalMutation disease ORPHANET Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. 23729695 2013
CUI: C4084821
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U 		0.720 Biomarker disease CTD_human
CUI: C4084821
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U 		0.720 CausalMutation disease CLINVAR