EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
2.3.1.37 | 5-aminolevulinate synthase deficiency |
1570328 |
Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency. |
causal interaction ongoing research unassigned |
3 3 0 |
2.3.1.37 | 5-aminolevulinate synthase deficiency |
12393610 |
Aberrant iron accumulation and oxidized status of erythroid-specific delta-aminolevulinate synthase (ALAS2)-deficient definitive erythroblasts. |
causal interaction unassigned |
3 0 |
2.3.1.37 | 5-aminolevulinate synthase deficiency |
29908199 |
Establishment of a cell model of X-linked sideroblastic anemia using genome editing. |
causal interaction unassigned |
4 0 |
2.3.1.37 | Alzheimer Disease |
19477221 |
Down-regulation of aminolevulinate synthase, the rate-limiting enzyme for heme biosynthesis in Alzheimer's disease. |
causal interaction ongoing research unassigned |
1 1 0 |
2.3.1.37 | Anemia |
500806 |
delta-Aminolevulinic acid synthetase in erythroblasts of patients with pyridoxine-responsive anemia. Hypercatabolism caused by the increased susceptibility to the controlling protease. |
therapeutic application unassigned |
1 0 |
2.3.1.37 | Anemia |
541749 |
Developmental and convalescent changes of the anemia caused by excess methionine in the rat. |
causal interaction diagnostic usage unassigned |
2 1 0 |
2.3.1.37 | Anemia |
934737 |
Heme synthesis in hereditary hemolytic anemias: decreased delta-aminolevulinic acid synthetase in hemoglobin Köln disease. |
causal interaction diagnostic usage ongoing research therapeutic application |
4 2 3 1 |
2.3.1.37 | Anemia |
3197910 |
Properties of chicken erythrocyte delta-aminolevulinate synthase. |
unassigned |
0 |
2.3.1.37 | Anemia |
3390396 |
5-Aminolaevulinic acid synthase activity in developing human erythroblasts. |
causal interaction diagnostic usage unassigned |
1 3 0 |
2.3.1.37 | Anemia |
7560104 |
Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts. |
causal interaction therapeutic application unassigned |
4 1 0 |