RIEG2, Rieger syndrome 2, 6012

N. diseases: 38; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
0.020 GeneticVariation disease BEFREE Mutations in several aminoacyl-tRNA synthetase (ARS) genes have been implicated in inherited CMT disease. 27008886 2016
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
0.020 GeneticVariation disease BEFREE Based on these data, KARS becomes the fourth ARS gene associated with CMT disease, indicating that this family of enzymes is specifically critical for axon function. 20920668 2010