EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    1.2.1.38 | carbamoyl-phosphate synthase (ammonia) deficiency |
27037498 |
Understanding N-acetyl-L-glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations. |
causal interaction
unassigned |
4
0 |
| 1.2.1.38 | Tuberculosis |
17316682 |
Crystal structure of N-acetyl-gamma-glutamyl-phosphate reductase from Mycobacterium tuberculosis in complex with NADP(+). |
ongoing research
unassigned |
2
0 |
| 1.2.1.38 | Urea Cycle Disorders, Inborn |
30337552 |
N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region. |
causal interaction
therapeutic application
unassigned |
3
2
0 |
| 1.2.1.38 | Urea Cycle Disorders, Inborn |
34510628 |
Non-coding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene. |
causal interaction
therapeutic application
unassigned |
1
3
0 |
