EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    6.1.1.22 | Alzheimer Disease |
30088171 |
Alzheimer's Disease Risk Variant rs2373115 Regulates GAB2 and NARS2 Expression in Human Brain Tissues. |
diagnostic usage
ongoing research
unassigned |
1
1
0 |
| 6.1.1.22 | Ataxia |
32738225 |
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects. |
causal interaction
ongoing research
unassigned |
2
1
0 |
| 6.1.1.22 | Autoimmune Diseases |
30171954 |
Unique N-terminal extension domain of human asparaginyl-tRNA synthetase elicits CCR3-mediated chemokine activity. |
causal interaction
unassigned |
1
0 |
| 6.1.1.22 | Brain Diseases |
33596490 |
The phenotypic variability and natural history of NARS2 associated disease. |
causal interaction
therapeutic application
unassigned |
4
1
0 |
| 6.1.1.22 | Carcinogenesis |
32117966 |
Asparaginyl-tRNA Synthetase, a Novel Component of Hippo Signaling, Binds to Salvador and Enhances Yorkie-Mediated Tumorigenesis. |
therapeutic application
unassigned |
1
0 |
| 6.1.1.22 | Cataract |
26045100 |
Exome Sequencing and Epigenetic Analysis of Twins Who Are Discordant for Congenital Cataract. |
unassigned |
0 |
| 6.1.1.22 | Central Nervous System Diseases |
33596490 |
The phenotypic variability and natural history of NARS2 associated disease. |
causal interaction
therapeutic application
unassigned |
4
1
0 |
| 6.1.1.22 | Colitis |
23254300 |
Nematode asparaginyl-tRNA synthetase resolves intestinal inflammation in mice with T-cell transfer colitis. |
ongoing research
unassigned |
4
0 |
| 6.1.1.22 | Deafness |
25807530 |
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. |
causal interaction
ongoing research
therapeutic application
unassigned |
3
4
3
0 |
| 6.1.1.22 | Diffuse Cerebral Sclerosis of Schilder |
25629079 |
Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome. |
causal interaction
unassigned |
1
0 |
