EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   2.7.7.72 | Agammaglobulinemia |
29170023 |
Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay. |
unassigned |
0 |
| 2.7.7.72 | Agammaglobulinemia |
33843817 |
A Novel Homozygous TRNT1 Mutation in a Child With an Early Diagnosis of Common Variable Immunodeficiency Leading to Mild Hypogammaglobulinemia and Hemolytic Anemia. |
causal interaction
diagnostic usage
unassigned |
4
4
0 |
| 2.7.7.72 | Anemia |
26494905 |
Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis. |
causal interaction
ongoing research
unassigned |
4
1
0 |
| 2.7.7.72 | Anemia |
27317422 |
Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts. |
causal interaction
unassigned |
3
0 |
| 2.7.7.72 | Anemia |
31338833 |
Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort. |
causal interaction
diagnostic usage
unassigned |
4
1
0 |
| 2.7.7.72 | Anemia |
33843817 |
A Novel Homozygous TRNT1 Mutation in a Child With an Early Diagnosis of Common Variable Immunodeficiency Leading to Mild Hypogammaglobulinemia and Hemolytic Anemia. |
causal interaction
diagnostic usage
unassigned |
4
4
0 |
| 2.7.7.72 | Anemia, Hemolytic |
33843817 |
A Novel Homozygous TRNT1 Mutation in a Child With an Early Diagnosis of Common Variable Immunodeficiency Leading to Mild Hypogammaglobulinemia and Hemolytic Anemia. |
causal interaction
diagnostic usage
unassigned |
4
4
0 |
| 2.7.7.72 | Anemia, Sideroblastic |
25193871 |
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). |
causal interaction
unassigned |
3
0 |
| 2.7.7.72 | Anemia, Sideroblastic |
26494905 |
Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis. |
causal interaction
ongoing research
unassigned |
4
1
0 |
| 2.7.7.72 | Anemia, Sideroblastic |
27317422 |
Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts. |
causal interaction
unassigned |
3
0 |
