EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
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 |
2.1.1.228 | Microcephaly |
30247717 |
Pancreatic ?-cell tRNA hypomethylation and fragmentation link TRMT10A deficiency with diabetes. |
causal interaction ongoing research unassigned |
4 2 0 |