| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.090 | Biomarker | disease | BEFREE | In AARS2 leukodystrophy cases reported thus far, there is nearly invariable progression to severe disability and atrophy of involved brain regions, often within a decade. | 31839000 | 2019 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | Our data provide further evidence that mutations of AARS2 are implicated in adult-onset leukodystrophy. | 31106991 | 2019 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | Our findings have important implications on genetic counseling for any case with leukodystrophy and extend the mutational spectrum in AARS2 gene. | 31388113 | 2019 | ||||
|
0.090 | Biomarker | disease | BEFREE | These cases expand the clinical heterogeneity of AARS2-related disorders, given that the first and third case represent some of the oldest known survivors of this disease, the second is adult-onset AARS2-related neurological decline without leukodystrophy, and the third is biallelic AARS2-related disorder involving a partial gene deletion. | 31099476 | 2019 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | Recently, also autosomal recessive mutations in AARS2 gene were found to be the cause of an adult-onset leukodystrophy with axonal spheroids. | 29749055 | 2018 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | Alanyl-tRNA synthetase 2 (AARS2) pathogenic variants have been reported to cause leukodystrophy with ovarian failure, and cardiomyopathy (#615889) as well as combined oxidative phosphorylation deficiency-8 (#614096). | 28820624 | 2018 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | The diagnosis of AARS2 gene mutations causing leukodystrophy was confirmed by genetic testing. | 27734837 | 2017 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations. | 27251004 | 2016 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | Novel (ovario) leukodystrophy related to AARS2 mutations. | 24808023 | 2014 |