EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    6.1.1.12 | Apnea |
20134048 |
Provocation of aspiration reflexes and their effects on the pattern of cough and reflex apnea in cats. |
unassigned |
0 |
| 6.1.1.12 | 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 |
| 6.1.1.12 | aspartate-trna ligase deficiency |
17384640 |
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. |
causal interaction
unassigned |
4
0 |
| 6.1.1.12 | aspartate-trna ligase deficiency |
27154400 |
Loss of CLPP alleviates mitochondrial cardiomyopathy without affecting the mammalian UPRmt. |
causal interaction
unassigned |
4
0 |
| 6.1.1.12 | aspartate-trna ligase deficiency |
28985337 |
DARS2 protects against neuroinflammation and apoptotic neuronal loss, but is dispensable for myelin producing cells. |
causal interaction
therapeutic application
unassigned |
2
1
0 |
| 6.1.1.12 | aspartate-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 |
| 6.1.1.12 | Ataxia |
21749991 |
Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation. |
causal interaction
diagnostic usage
unassigned |
4
3
0 |
| 6.1.1.12 | Ataxia |
24030952 |
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model. |
unassigned |
0 |
| 6.1.1.12 | Ataxia |
28985337 |
DARS2 protects against neuroinflammation and apoptotic neuronal loss, but is dispensable for myelin producing cells. |
causal interaction
therapeutic application
unassigned |
2
1
0 |
| 6.1.1.12 | Carcinogenesis |
29052520 |
Upregulation of DARS2 by HBV promotes hepatocarcinogenesis through the miR-30e-5p/MAPK/NFAT5 pathway. |
diagnostic usage
ongoing research
therapeutic application
unassigned |
3
4
1
0 |
