EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category  |
Confidence Level |
|---|
    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 | Myasthenic Syndromes, Congenital |
22742743 |
Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. |
causal interaction
unassigned |
4
0 |
| 2.6.1.16 | Myasthenic Syndromes, Congenital |
22987706 |
Limb-girdle myasthenia with tubular aggregates associated with novel GFPT1 mutations. |
causal interaction
unassigned |
3
0 |
| 2.6.1.16 | Myasthenic Syndromes, Congenital |
23569079 |
Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR. |
causal interaction
unassigned |
3
0 |
| 2.6.1.16 | Myasthenic Syndromes, Congenital |
25765662 |
A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome. |
causal interaction
therapeutic application
unassigned |
3
1
0 |
| 2.6.1.16 | Myasthenic Syndromes, Congenital |
26501342 |
Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1). |
causal interaction
ongoing research
therapeutic application
unassigned |
1
2
1
0 |
| 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 | Myasthenic Syndromes, Congenital |
30846217 |
Phenotype of a limb-girdle congenital myasthenic syndrome patient carrying a GFPT1 mutation. |
causal interaction
unassigned |
3
0 |
| 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 | Neoplasms |
26715276 |
Altered glycometabolism affects both clinical features and prognosis of triple-negative and neoadjuvant chemotherapy-treated breast cancer. |
causal interaction
diagnostic usage
ongoing research
unassigned |
3
4
1
0 |
