EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    2.7.6.1 | 5'-nucleotidase deficiency |
1663846 |
Phosphoribosylpyrophosphate synthetase in human erythrocytes: assay and kinetic studies using high-performance liquid chromatography. |
causal interaction
diagnostic usage
ongoing research
unassigned |
4
2
2
0 |
| 2.7.6.1 | 5'-nucleotidase deficiency |
2535789 |
Pyrimidine nucleotides impair phosphoribosylpyrophosphate (PRPP) synthetase subunit aggregation by sequestering magnesium. A mechanism for the decreased PRPP synthetase activity in hereditary erythrocyte pyrimidine 5'-nucleotidase deficiency. |
unassigned |
0 |
| 2.7.6.1 | adenylosuccinate lyase deficiency |
11098885 |
Metabolic approaches to the treatment of autism spectrum disorders. |
causal interaction
therapeutic application
unassigned |
4
3
0 |
| 2.7.6.1 | alpha-Thalassemia |
2544652 |
Decreased erythrocyte phosphoribosylpyrophosphate synthetase activity and impaired formation in thalassemia minor: a mechanism for decreased adenine nucleotide content. |
causal interaction
unassigned |
3
0 |
| 2.7.6.1 | Anemia, Aplastic |
11531161 |
Effects of Sheng-Mai injection on the PRPP synthetase activity in BFU-es and CFU-es from bone marrows of mice with benzene-induced aplastic anemia. |
ongoing research
therapeutic application
unassigned |
4
1
0 |
| 2.7.6.1 | Anemia, Hemolytic |
10916681 |
Chronic non-spherocytic haemolytic anaemia due to congenital pyrimidine 5' nucleotidase deficiency: 25 years later. |
unassigned |
0 |
| 2.7.6.1 | Anemia, Megaloblastic |
177842 |
Acquired increases of human erythrocyte purine enzymes. |
causal interaction
diagnostic usage
therapeutic application
unassigned |
1
2
1
0 |
| 2.7.6.1 | Anemia, Pernicious |
7783706 |
Uric acid nephrolithiasis. |
causal interaction
unassigned |
1
0 |
| 2.7.6.1 | Arthritis, Gouty |
169259 |
Human phosphoribosylpyrophosphate synthetase. Comparison of purified normal and mutant enzymes. |
ongoing research
unassigned |
2
0 |
| 2.7.6.1 | Ataxia |
2163266 |
[Metabolism of purine nucleotides in the central nervous system in patients with phosphoribosylpyrophosphate synthetase hyperactivity and neurosensory deafness] |
causal interaction
therapeutic application
unassigned |
1
1
0 |
