EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
6.1.1.1 | Acidosis, Lactic |
20598274 |
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome. |
unassigned |
0 |
6.1.1.1 | Acidosis, Lactic |
22504945 |
A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia. |
ongoing research unassigned |
1 0 |
6.1.1.1 | Acidosis, Lactic |
24344687 |
Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia. |
causal interaction unassigned |
4 0 |
6.1.1.1 | Acidosis, Lactic |
24430573 |
A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2. |
causal interaction unassigned |
1 0 |
6.1.1.1 | Acidosis, Lactic |
34441767 |
Two Novel Variants in YARS2 Gene Are Responsible for an Extended MLASA Phenotype with Pancreatic Insufficiency. |
unassigned |
0 |
6.1.1.1 | Anemia, Sideroblastic |
22504945 |
A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia. |
ongoing research unassigned |
1 0 |
6.1.1.1 | Anemia, Sideroblastic |
24344687 |
Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia. |
causal interaction unassigned |
4 0 |
6.1.1.1 | Anemia, Sideroblastic |
24430573 |
A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2. |
causal interaction unassigned |
1 0 |
6.1.1.1 | Anemia, Sideroblastic |
34441767 |
Two Novel Variants in YARS2 Gene Are Responsible for an Extended MLASA Phenotype with Pancreatic Insufficiency. |
unassigned |
0 |
6.1.1.1 | Asthma |
21479357 |
Association analysis of DTD1 gene variations with aspirin-intolerance in asthmatics. |
unassigned |
0 |