EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   2.7.8.17 | adenylate kinase deficiency |
16835905 |
Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG. |
causal interaction
ongoing research
unassigned |
4
1
0 |
| 2.7.8.17 | Apraxias |
24807205 |
A study of the role of the FOXP2 and CNTNAP2 genes in persistent developmental stuttering. |
causal interaction
unassigned |
1
0 |
| 2.7.8.17 | Bone Resorption |
34341521 |
Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III. |
ongoing research
unassigned |
1
0 |
| 2.7.8.17 | Cardiomyopathies |
15633164 |
A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy. |
causal interaction
unassigned |
4
0 |
| 2.7.8.17 | Congenital Abnormalities |
30204966 |
MUCOLIPIDOSIS II INFANTS PRESENTING WITH SKELETAL DEFORMITIES MIMICKING RICKETS AND A NEW MUTATION IN GNPTAB GENE. |
causal interaction
unassigned |
2
0 |
| 2.7.8.17 | Dyslexia |
25643770 |
Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population. |
causal interaction
ongoing research
unassigned |
2
4
0 |
| 2.7.8.17 | Hyperparathyroidism, Secondary |
31758855 |
A neonate with mucolipidosis II and transient secondary hyperparathyroidism. |
causal interaction
unassigned |
3
0 |
| 2.7.8.17 | Infections |
30655525 |
A genome-wide CRISPR screen identifies N-acetylglucosamine-1-phosphate transferase as a potential antiviral target for Ebola virus. |
causal interaction
ongoing research
therapeutic application
unassigned |
4
2
1
0 |
| 2.7.8.17 | Lysosomal Storage Diseases |
17962477 |
Mice Lacking {alpha}/{beta} Subunits of GlcNAc-1-Phosphotransferase Exhibit Growth Retardation, Retinal Degeneration, and Secretory Cell Lesions. |
causal interaction
diagnostic usage
ongoing research
therapeutic application |
4
3
3
1 |
| 2.7.8.17 | Lysosomal Storage Diseases |
19710420 |
Mice lacking mannose 6-phosphate uncovering enzyme activity have a milder phenotype than mice deficient for N-acetylglucosamine-1-phosphotransferase activity. |
causal interaction
therapeutic application
unassigned |
3
1
0 |
