Gene: GARS1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2617
Gene Symbol: GARS1
GARS1 		0.140 GeneticVariation disease CLINVAR Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease. 27008886 2016
Entrez Id: 2617
Gene Symbol: GARS1
GARS1 		0.140 GeneticVariation disease CLINVAR CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase. 26503042 2015
Entrez Id: 2617
Gene Symbol: GARS1
GARS1 		0.140 CausalMutation disease CLINVAR Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease. 26244500 2015
Entrez Id: 2617
Gene Symbol: GARS1
GARS1 		0.140 GeneticVariation disease CLINVAR Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetases. 26138142 2015
Entrez Id: 2617
Gene Symbol: GARS1
GARS1 		0.140 CausalMutation disease CLINVAR Application of whole exome sequencing in undiagnosed inherited polyneuropathies. 24604904 2014
Entrez Id: 2617
Gene Symbol: GARS1
GARS1 		0.140 CausalMutation disease CLINVAR Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations. 25168514 2014
Entrez Id: 2617
Gene Symbol: GARS1
GARS1 		0.140 GeneticVariation disease CLINVAR Dispersed disease-causing neomorphic mutations on a single protein promote the same localized conformational opening. 21737751 2011
Entrez Id: 2617
Gene Symbol: GARS1
GARS1 		0.140 GeneticVariation disease CLINVAR Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect. 17595294 2007
Entrez Id: 2617
Gene Symbol: GARS1
GARS1 		0.140 GeneticVariation disease CLINVAR Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons. 17035524 2006
Entrez Id: 2617
Gene Symbol: GARS1
GARS1 		0.140 CausalMutation disease CLINVAR Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene. 17101916 2006
Entrez Id: 2617
Gene Symbol: GARS1
GARS1 		0.140 CausalMutation disease CLINVAR Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations. 16014653 2005
Entrez Id: 2617
Gene Symbol: GARS1
GARS1 		0.140 Biomarker disease BEFREE Four loci for autosomal dominant hereditary motor and sensory neuropathy type II (HMSN II) or Charcot-Marie-Tooth disease type 2 (CMT2) have been localized on chromosomes 1p35-p36 (CMT2A), 3q13-q22 (CMT2B), 7p14 (CMT2D), and 3p (HMSN-P). 10520946 1999
Entrez Id: 2617
Gene Symbol: GARS1
GARS1 		0.140 GeneticVariation disease BEFREE Linkage to 1p35-p36 (CMT2A), 3q (CMT2B), and 7p (CMT2D) chromosomes has been reported in the disease; however, most HMSN II families do not link to any of the reported loci. 9595994 1998
Entrez Id: 2617
Gene Symbol: GARS1
GARS1 		0.140 GeneticVariation disease BEFREE A CMT2 family was examined for linkage to the CMT2A, CMT2B, and CMT2D loci using short tandem repeat polymorphisms. 9219740 1997
Entrez Id: 2617
Gene Symbol: GARS1
GARS1 		0.140 GeneticVariation disease BEFREE Charcot-Marie-Tooth disease type 2 (CMT2) is characterized by a motor conduction velocity of the median nerve of > 38 m/sec and is a genetically heterogeneous disorder with at least three loci identified: CMT2A (1p35-36), CMT2B (3q13-22), CMT2C (not linked to any known loci), and CMT2D (7p14). 9409358 1997