EC Number   |
Disease |
PubMed ID |
Title of Publication  |
Category |
Confidence Level |
|---|
    5.1.3.14 | Sialic Acid Storage Disease |
444571 |
2-Acetamidoglucal, a new metabolite isolated from the urine of a patient with sialuria. |
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 | Muscular Diseases |
24285971 |
A Case of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy. |
unassigned |
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 | Muscular Diseases |
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 |
17164266 |
A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. |
causal interaction
unassigned |
1
0 |
| 5.1.3.14 | Muscular Diseases |
17164266 |
A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. |
causal interaction
unassigned |
1
0 |
| 5.1.3.14 | Distal Myopathies |
14733963 |
A Japanese patient with distal myopathy with rimmed vacuoles: missense mutations in the epimerase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene accompanied by hyposialylation of skeletal muscle glycoproteins. |
causal interaction
unassigned |
3
0 |
| 5.1.3.14 | Muscular Diseases |
14733963 |
A Japanese patient with distal myopathy with rimmed vacuoles: missense mutations in the epimerase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene accompanied by hyposialylation of skeletal muscle glycoproteins. |
causal interaction
unassigned |
3
0 |
| 5.1.3.14 | Distal Myopathies |
14678807 |
A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation. |
causal interaction
unassigned |
1
0 |
