EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
5.1.3.14 | Distal Myopathies |
17643062 |
Expression of autophagy-associated genes in skeletal muscle: an experimental model of chloroquine-induced myopathy. |
causal interaction unassigned |
1 0 |
5.1.3.14 | Distal Myopathies |
17704511 |
A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. |
causal interaction unassigned |
2 0 |
5.1.3.14 | Distal Myopathies |
20030229 |
[Development of therapy for distal myopathy with rimmed vacuoles] |
causal interaction unassigned |
2 0 |
5.1.3.14 | Distal Myopathies |
21307865 |
Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles. |
causal interaction unassigned |
1 0 |
5.1.3.14 | Distal Myopathies |
22855677 |
Novel Mutations of the GNE Gene in Distal Myopathy with Rimmed Vacuoles Presenting with Very Slow Progression. |
causal interaction unassigned |
2 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 |
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 | Malaria |
16121806 |
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus. |
causal interaction unassigned |
1 0 |
5.1.3.14 | Muscular Diseases |
11528398 |
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. |
causal interaction unassigned |
2 0 |