EC Number   |
Disease  |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   2.1.1.228 | Intellectual Disability |
26526202 |
tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy. |
causal interaction
ongoing research
therapeutic application
unassigned |
4
1
3
0 |
| 2.1.1.228 | Intellectual Disability |
28784718 |
TRMT1-catalyzed tRNA modifications are required for redox homeostasis to ensure proper cellular proliferation and oxidative stress survival. |
causal interaction
unassigned |
3
0 |
| 2.1.1.228 | Intellectual Disability |
30289604 |
Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability. |
unassigned |
0 |
| 2.1.1.228 | Intellectual Disability |
30415557 |
tRNA Methyltransferase Defects and Intellectual Disability. |
diagnostic usage
ongoing research
therapeutic application
unassigned |
2
1
1
0 |
| 2.1.1.228 | Intellectual Disability |
33067246 |
tRNA methyltransferase 10 homologue A (TRMT10A) mutation in a Chinese patient with diabetes, insulin resistance, intellectual deficiency and microcephaly. |
causal interaction
ongoing research
unassigned |
4
1
0 |
| 2.1.1.228 | Intellectual Disability |
33448213 |
TRMT10A mutation in a child with diabetes, short stature, microcephaly and hypoplastic kidneys. |
causal interaction
unassigned |
3
0 |
| 2.1.1.228 | Intellectual Disability |
34541035 |
Expanding the Phenotype of TRMT10A Mutations: Case Report and a Review of the Existing Cases. |
causal interaction
unassigned |
4
0 |
| 2.1.1.228 | Leukemia |
3855480 |
Differences in activity of N2-guanine tRNA methyltransferase II among several inbred strains of mice. |
diagnostic usage
ongoing research
unassigned |
1
3
0 |
| 2.1.1.228 | Microcephaly |
24204302 |
tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans. |
causal interaction
ongoing research
therapeutic application
unassigned |
4
1
1
0 |
| 2.1.1.228 | Microcephaly |
26526202 |
tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy. |
causal interaction
ongoing research
therapeutic application
unassigned |
4
1
3
0 |
