EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level  |
|---|
    5.1.3.14 | Distal Myopathies |
18646567 |
Perspectives on distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy: contributions from an animal model. Lack of sialic acid, a central determinant in sugar chains, causes myopathy? |
unassigned |
0 |
| 5.1.3.14 | Distal Myopathies |
20644153 |
Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy. |
unassigned |
0 |
| 5.1.3.14 | Distal Myopathies |
24285971 |
A Case of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy. |
unassigned |
0 |
| 5.1.3.14 | Distal Myopathies |
24707269 |
A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation. |
causal interaction
unassigned |
3
0 |
| 5.1.3.14 | Distal Myopathies |
26053703 |
Muscle biopsy and UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene mutation analysis in two Chinese patients with distal myopathy with rimmed vacuoles. |
ongoing research
therapeutic application
unassigned |
1
1
0 |
| 5.1.3.14 | Distal Myopathies |
27829678 |
Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele. |
causal interaction
unassigned |
2
0 |
| 5.1.3.14 | Distal Myopathies |
30390020 |
GNE myopathy in Chinese population: hotspot and novel mutations. |
causal interaction
unassigned |
1
0 |
| 5.1.3.14 | Dwarfism |
16121806 |
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus. |
causal interaction
unassigned |
1
0 |
| 5.1.3.14 | Genetic Diseases, Inborn |
28895049 |
Mutation in GNE Downregulates Peroxiredoxin IV Altering ER Redox Homeostasis. |
causal interaction
unassigned |
1
0 |
| 5.1.3.14 | Hematuria |
17549251 |
Sizing up sialic acid in glomerular disease. |
causal interaction
unassigned |
2
0 |
