EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
4.2.1.70 | Acidosis, Lactic |
17056637 |
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). |
causal interaction unassigned |
2 0 |
4.2.1.70 | Acidosis, Lactic |
21686963 |
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). |
causal interaction unassigned |
2 0 |
4.2.1.70 | African Swine Fever |
33501800 |
[Comparison of the antigenicity of African swine fever virus p35 protein as diagnostic antigen]. |
unassigned |
0 |
4.2.1.70 | Anemia, Sideroblastic |
17056637 |
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). |
causal interaction unassigned |
2 0 |
4.2.1.70 | Anemia, Sideroblastic |
21686963 |
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). |
causal interaction unassigned |
2 0 |
4.2.1.70 | Anemia, Sideroblastic |
25152040 |
An investigation into eukaryotic pseudouridine synthases. |
causal interaction unassigned |
1 0 |
4.2.1.70 | Anemia, Sideroblastic |
25227147 |
Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood. |
causal interaction unassigned |
3 0 |
4.2.1.70 | Bone Marrow Failure Disorders |
19734544 |
PATHOGENIC NAP57 MUTATIONS DECREASE RIBONUCLEOPROTEIN ASSEMBLY IN DYSKERATOSIS CONGENITA. |
causal interaction unassigned |
2 0 |
4.2.1.70 | Brain Ischemia |
17089194 |
Calpain-induced proteolysis after transient global cerebral ischemia and ischemic tolerance in a rat model. |
ongoing research therapeutic application unassigned |
1 1 0 |
4.2.1.70 | Carcinogenesis |
34452948 |
Glioblastoma Is Dependent on tRNA Pseudouridylation. |
unassigned |
0 |