EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category  |
Confidence Level |
|---|
    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 |
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 |
| 2.3.1.37 | Anemia |
8154933 |
Abnormal haem biosynthesis in the chronic anaemia of rheumatoid arthritis. |
causal interaction
unassigned |
1
0 |
| 2.3.1.37 | Anemia |
9372069 |
The molecular basis of the sideroblastic anemias. |
causal interaction
unassigned |
3
0 |
| 2.3.1.37 | Anemia |
16735131 |
X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns. |
causal interaction
unassigned |
4
0 |
| 2.3.1.37 | Anemia |
24829177 |
X-linked sideroblastic anaemia due to ALAS? mutations in the Netherlands: a disease in disguise. |
causal interaction
unassigned |
4
0 |
| 2.3.1.37 | Anemia |
28123038 |
Intron 1 GATA site enhances ALAS2 expression indispensably during erythroid differentiation. |
causal interaction
unassigned |
3
0 |
| 2.3.1.37 | Anemia |
31338833 |
Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort. |
causal interaction
diagnostic usage
unassigned |
4
1
0 |
| 2.3.1.37 | Anemia, Sideroblastic |
2347585 |
Human delta-aminolevulinate synthase: assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome. |
causal interaction
unassigned |
3
0 |
| 2.3.1.37 | Anemia, Sideroblastic |
3390396 |
5-Aminolaevulinic acid synthase activity in developing human erythroblasts. |
causal interaction
diagnostic usage
unassigned |
1
3
0 |
