EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    6.1.1.16 | Brain Diseases |
25787132 |
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder. |
causal interaction
unassigned |
4
0 |
| 6.1.1.16 | Cerebral Infarction |
30686629 |
Cerebral Infarction in CARS2 Mutation. |
causal interaction
unassigned |
4
0 |
| 6.1.1.16 | Colonic Neoplasms |
34046350 |
A Novel Ferroptosis Related Gene Signature for Prognosis Prediction in Patients With Colon Cancer. |
diagnostic usage
ongoing research
unassigned |
4
4
0 |
| 6.1.1.16 | Cystic Fibrosis |
14560314 |
In NF1, CFTR, PER3, CARS and SYT7, alternatively included exons show higher conservation of surrounding intron sequences than constitutive exons. |
ongoing research
unassigned |
3
0 |
| 6.1.1.16 | Microcephaly |
30824121 |
Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails. |
causal interaction
unassigned |
2
0 |
| 6.1.1.16 | Movement Disorders |
25787132 |
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder. |
causal interaction
unassigned |
4
0 |
| 6.1.1.16 | Myoclonic Epilepsies, Progressive |
25361775 |
A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy. |
causal interaction
unassigned |
4
0 |
| 6.1.1.16 | Neoplasms |
32461342 |
Endogenous TLR2 ligand embedded in the catalytic region of human cysteinyl-tRNA synthetase 1. |
ongoing research
therapeutic application
unassigned |
1
1
0 |
| 6.1.1.16 | Neurofibromatosis 1 |
14560314 |
In NF1, CFTR, PER3, CARS and SYT7, alternatively included exons show higher conservation of surrounding intron sequences than constitutive exons. |
ongoing research
unassigned |
3
0 |
| 6.1.1.16 | Rickettsia Infections |
26234571 |
Immunoproteomic profiling of Rickettsia parkeri and Rickettsia amblyommii. |
diagnostic usage
unassigned |
2
0 |
