Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 16
Gene Symbol: AARS1
AARS1
CUI: C2750090
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2n
Charcot-Marie-Tooth Disease, Axonal, Type 2n 		0.710 GeneticVariation UNIPROT A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). 22009580

2012
Entrez Id: 16
Gene Symbol: AARS1
AARS1
CUI: C2750090
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2n
Charcot-Marie-Tooth Disease, Axonal, Type 2n 		0.710 GeneticVariation UNIPROT The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. 22206013

2011
Entrez Id: 16
Gene Symbol: AARS1
AARS1
CUI: C2750090
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2n
Charcot-Marie-Tooth Disease, Axonal, Type 2n 		0.710 GeneticVariation UNIPROT A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease. 20045102

2010