EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    6.1.1.7 | Ataxia |
16906134 |
Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration. |
causal interaction
unassigned |
2
0 |
| 6.1.1.7 | Ataxia |
31705293 |
Alanyl-tRNA Synthetase 2 (AARS2)-Related Ataxia Without Leukoencephalopathy. |
causal interaction
unassigned |
4
0 |
| 6.1.1.7 | Brain Diseases |
25817015 |
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect. |
causal interaction
unassigned |
3
0 |
| 6.1.1.7 | Brain Diseases |
28493438 |
Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy. |
causal interaction
unassigned |
3
0 |
| 6.1.1.7 | CADASIL |
31920941 |
Novel Alanyl-tRNA Synthetase 2 Pathogenic Variants in Leukodystrophies. |
causal interaction
ongoing research
unassigned |
3
1
0 |
| 6.1.1.7 | Cardiomyopathies |
21549344 |
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. |
causal interaction
therapeutic application
unassigned |
2
1
0 |
| 6.1.1.7 | Cardiomyopathies |
25058219 |
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. |
causal interaction
diagnostic usage
unassigned |
2
2
0 |
| 6.1.1.7 | Cardiomyopathies |
25705216 |
Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation. |
causal interaction
unassigned |
3
0 |
| 6.1.1.7 | Cardiomyopathies |
27734837 |
Novel AARS2 gene mutation producing leukodystrophy: a case report. |
causal interaction
diagnostic usage
unassigned |
3
3
0 |
| 6.1.1.7 | Cardiomyopathies |
27839525 |
Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature. |
causal interaction
ongoing research
unassigned |
4
1
0 |
