EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    2.4.2.8 | 5'-nucleotidase deficiency |
24972650 |
Inborn errors of purine metabolism: clinical update and therapies. |
causal interaction
therapeutic application
unassigned |
3
1
0 |
| 2.4.2.8 | Acquired Immunodeficiency Syndrome |
3114134 |
Activities of purine metabolising enzymes in lymphocytes of neonates and young children: correlates with immune function. |
therapeutic application
unassigned |
1
0 |
| 2.4.2.8 | ACTH-Secreting Pituitary Adenoma |
1358909 |
Clonal origins of adrenocorticotropin-secreting pituitary tissue in Cushing's disease. |
diagnostic usage
unassigned |
3
0 |
| 2.4.2.8 | Acute Kidney Injury |
2642113 |
Purine enzyme defects as a cause of acute renal failure in childhood. |
causal interaction
unassigned |
4
0 |
| 2.4.2.8 | Acute Kidney Injury |
3991573 |
Acute renal failure in an infant with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase. |
causal interaction
unassigned |
4
0 |
| 2.4.2.8 | Acute Kidney Injury |
6720419 |
Problems of diagnosis in an adolescent with hypoxanthine-guanine phosphoribosyltransferase deficiency and acute renal failure. |
causal interaction
diagnostic usage
unassigned |
4
2
0 |
| 2.4.2.8 | Acute Kidney Injury |
10657589 |
Kelley-Seegmiller syndrome due to a unique variant of hypoxanthine-guanine phosphoribosyltransferase: reduced affinity for 5-phosphoribosyl-1-pyrophosphate manifested only at low, physiological substrate concentrations. |
causal interaction
therapeutic application
unassigned |
3
1
0 |
| 2.4.2.8 | Acute Kidney Injury |
11891689 |
Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene. |
causal interaction
diagnostic usage
therapeutic application
unassigned |
4
3
4
0 |
| 2.4.2.8 | Acute Kidney Injury |
16240158 |
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency presenting as acute renal failure. |
causal interaction
diagnostic usage
unassigned |
4
2
0 |
| 2.4.2.8 | Acute Kidney Injury |
16343967 |
Molecular, biochemical, and genetic characterization of a female patient with Lesch-Nyhan disease. |
causal interaction
unassigned |
4
0 |
