EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   2.4.1.312 | Brain Diseases |
18646561 |
Muscular dystrophies due to defective glycosylation of dystroglycan. |
causal interaction
unassigned |
3
0 |
| 2.4.1.312 | Cobblestone Lissencephaly |
22323514 |
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. |
causal interaction
unassigned |
1
0 |
| 2.4.1.312 | Coloboma |
19450440 |
A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature. |
causal interaction
therapeutic application
unassigned |
2
1
0 |
| 2.4.1.312 | Coloboma |
19452620 |
A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature. |
causal interaction
therapeutic application
unassigned |
2
1
0 |
| 2.4.1.312 | Cysts |
19067344 |
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. |
causal interaction
diagnostic usage
therapeutic application
unassigned |
4
4
1
0 |
| 2.4.1.312 | Cysts |
33413009 |
Congenital Mirror Movements Associated With Brain Malformations. |
causal interaction
unassigned |
2
0 |
| 2.4.1.312 | Diabetes Mellitus, Type 2 |
26783077 |
Generalization of Rare Variant Association Tests for Longitudinal Family Studies. |
causal interaction
diagnostic usage
ongoing research
unassigned |
1
3
3
0 |
| 2.4.1.312 | Eye Abnormalities |
12966029 |
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. |
causal interaction
unassigned |
2
0 |
| 2.4.1.312 | Eye Abnormalities |
20682766 |
Post-translational maturation of dystroglycan is necessary for pikachurin binding and ribbon synaptic localization. |
unassigned |
0 |
| 2.4.1.312 | Glioblastoma |
25085363 |
Role of glycosyltransferase PomGnT1 in glioblastoma progression. |
causal interaction
diagnostic usage
ongoing research
therapeutic application |
4
3
3
4 |
