EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    6.1.1.19 | Acidosis, Lactic |
22283595 |
Mitochondrial disease and epilepsy. |
causal interaction
unassigned |
4
0 |
| 6.1.1.19 | arginine-trna ligase deficiency |
32071833 |
Phenotypes and genotypes of mitochondrial aminoacyl-tRNA synthetase deficiencies from a single neurometabolic clinic. |
causal interaction
diagnostic usage
unassigned |
4
4
0 |
| 6.1.1.19 | Ataxia |
22283595 |
Mitochondrial disease and epilepsy. |
causal interaction
unassigned |
4
0 |
| 6.1.1.19 | Brain Diseases |
22569581 |
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients. |
causal interaction
unassigned |
4
0 |
| 6.1.1.19 | Brain Diseases |
25809939 |
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings. |
causal interaction
unassigned |
4
0 |
| 6.1.1.19 | Brain Diseases |
26970947 |
RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia. |
causal interaction
unassigned |
3
0 |
| 6.1.1.19 | Brain Diseases |
27683254 |
RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy? |
causal interaction
therapeutic application
unassigned |
3
1
0 |
| 6.1.1.19 | Brain Diseases |
31536827 |
A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome. |
causal interaction
unassigned |
4
0 |
| 6.1.1.19 | Brain Diseases |
31814314 |
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum. |
unassigned |
0 |
| 6.1.1.19 | Brain Diseases |
33120460 |
[Early onset epileptic encephalopathy caused by mitochondrial arginyl-tRNA synthetase gene deficiency: report of two cases and literature review]. |
causal interaction
diagnostic usage
therapeutic application
unassigned |
3
2
1
0 |
