EC Number   |
Disease |
PubMed ID |
Title of Publication  |
Category |
Confidence Level |
|---|
    2.6.1.16 | Myasthenic Syndromes, Congenital |
32754643 |
Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1. |
causal interaction
unassigned |
3
0 |
| 2.6.1.16 | Myasthenic Syndromes, Congenital |
21975507 |
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations. |
causal interaction
diagnostic usage
unassigned |
3
3
0 |
| 2.6.1.16 | Neuromuscular Junction Diseases |
21975507 |
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations. |
causal interaction
diagnostic usage
unassigned |
3
3
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 | Glioblastoma |
31414301 |
Correction to: Mammalian Target of Rapamycin 2 (MTOR2) and C-MYC Modulate Glucosamine-6-Phosphate Synthesis in Glioblastoma (GBM) Cells Through Glutamine: Fructose-6-Phosphate Aminotransferase 1 (GFAT1). |
ongoing research
unassigned |
1
0 |
| 2.6.1.16 | Insulin Resistance |
8798515 |
Differential effects of GLUT1 or GLUT4 overexpression on hexosamine biosynthesis by muscles of transgenic mice. |
unassigned |
0 |
| 2.6.1.16 | glutamine-fructose-6-phosphate transaminase (isomerizing) deficiency |
32615907 |
Drosophila GFAT1 and GFAT2 enzymes encode obligate developmental functions. |
unassigned |
0 |
| 2.6.1.16 | Diabetes Mellitus, Type 2 |
17024311 |
Effect of +36T>C in intron 1 on the glutamine: fructose-6-phosphate amidotransferase 1 gene and its contribution to type 2 diabetes in different populations. |
diagnostic usage
ongoing research
therapeutic application
unassigned |
3
4
1
0 |
| 2.6.1.16 | Insulin Resistance |
16555472 |
Effect of sucrose and saturated-fat diets on mRNA levels of genes limiting muscle fatty acid and glucose supply in rats. |
causal interaction
unassigned |
2
0 |
