EC Number   |
Disease |
PubMed ID  |
Title of Publication |
Category |
Confidence Level |
|---|
    2.6.1.16 | Myasthenic Syndromes, Congenital |
28712002 |
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy. |
causal interaction
unassigned |
1
0 |
| 2.6.1.16 | choline o-acetyltransferase deficiency |
29395675 |
Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up. |
causal interaction
unassigned |
4
0 |
| 2.6.1.16 | glutamine-fructose-6-phosphate transaminase (isomerizing) deficiency |
29395675 |
Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up. |
causal interaction
unassigned |
4
0 |
| 2.6.1.16 | Pancreatic Neoplasms |
29753740 |
2-Deoxy-d-glucose increases GFAT1 phosphorylation resulting in endoplasmic reticulum-related apoptosis via disruption of protein N-glycosylation in pancreatic cancer cells. |
causal interaction
therapeutic application
unassigned |
4
2
0 |
| 2.6.1.16 | Adenocarcinoma |
29760045 |
GFPT2-Expressing Cancer-Associated Fibroblasts Mediate Metabolic Reprogramming in Human Lung Adenocarcinoma. |
unassigned |
0 |
| 2.6.1.16 | glutamine-fructose-6-phosphate transaminase (isomerizing) deficiency |
29905857 |
GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice. |
causal interaction
unassigned |
2
0 |
| 2.6.1.16 | Muscle Weakness |
29905857 |
GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice. |
causal interaction
unassigned |
2
0 |
| 2.6.1.16 | Muscular Diseases |
29905857 |
GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice. |
causal interaction
unassigned |
2
0 |
| 2.6.1.16 | Myasthenic Syndromes, Congenital |
29905857 |
GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice. |
causal interaction
unassigned |
2
0 |
| 2.6.1.16 | Starvation |
30201609 |
mTORC2 modulates the amplitude and duration of GFAT1 Ser243 phosphorylation to maintain flux through the hexosamine pathway during starvation. |
therapeutic application
unassigned |
1
0 |
