EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
5.4.99.B22 | Anemia, Sideroblastic |
15108122 |
Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). |
unassigned |
0 |
5.4.99.B22 | Mitochondrial Myopathies |
15108122 |
Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). |
unassigned |
0 |
5.4.99.B22 | Anemia, Sideroblastic |
15772074 |
Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation. |
causal interaction unassigned |
4 0 |
5.4.99.B22 | Mitochondrial Myopathies |
15772074 |
Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation. |
causal interaction unassigned |
4 0 |
5.4.99.B22 | Anemia, Sideroblastic |
17170069 |
Pus3p- and Pus1p-dependent pseudouridylation of steroid receptor RNA activator controls a functional switch that regulates nuclear receptor signaling. |
unassigned |
0 |
5.4.99.B22 | Mitochondrial Myopathies |
17170069 |
Pus3p- and Pus1p-dependent pseudouridylation of steroid receptor RNA activator controls a functional switch that regulates nuclear receptor signaling. |
unassigned |
0 |
5.4.99.B22 | Anemia, Sideroblastic |
27197761 |
Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations. |
ongoing research unassigned |
2 0 |
5.4.99.B22 | Mitochondrial Myopathies |
27197761 |
Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations. |
ongoing research unassigned |
2 0 |
5.4.99.B22 | Dyskeratosis Congenita |
29801475 |
Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report. |
causal interaction unassigned |
4 0 |
5.4.99.B22 | Breast Neoplasms |
32868896 |
The nucleolar-related protein Dyskerin pseudouridine synthase 1 (DKC1) predicts poor prognosis in breast cancer. |
diagnostic usage ongoing research therapeutic application unassigned |
3 1 1 0 |