EC Number   |
Disease |
PubMed ID  |
Title of Publication |
Category |
Confidence Level |
|---|
    6.2.1.4 | Diabetes Mellitus, Experimental |
2936621 |
Inhibition by streptozotocin of the activity of succinyl-CoA synthetase in vitro and in vivo. |
causal interaction
ongoing research
unassigned |
1
1
0 |
| 6.2.1.4 | Porphyrias, Hepatic |
3350152 |
Physiological roles of animal succinate thiokinases. Specific association of the guanine nucleotide-linked enzyme with haem biosynthesis. |
causal interaction
unassigned |
4
0 |
| 6.2.1.4 | Anemia, Sideroblastic |
10727444 |
Interaction between succinyl CoA synthetase and the heme-biosynthetic enzyme ALAS-E is disrupted in sideroblastic anemia. |
causal interaction
unassigned |
2
0 |
| 6.2.1.4 | succinate-coa ligase (gdp-forming) deficiency |
17301081 |
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. |
causal interaction
diagnostic usage
unassigned |
4
2
0 |
| 6.2.1.4 | Acidosis |
18392745 |
Disorders caused by deficiency of succinate-CoA ligase. |
causal interaction
unassigned |
4
0 |
| 6.2.1.4 | Acidosis, Lactic |
19526370 |
A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria. |
causal interaction
unassigned |
3
0 |
| 6.2.1.4 | Mitochondrial Diseases |
20197121 |
New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria. |
causal interaction
therapeutic application
unassigned |
3
1
0 |
| 6.2.1.4 | Acidosis |
20227526 |
Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch. |
causal interaction
unassigned |
4
0 |
| 6.2.1.4 | succinate-coa ligase (gdp-forming) deficiency |
20693550 |
The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein. |
causal interaction
unassigned |
4
0 |
| 6.2.1.4 | Acidosis, Lactic |
21093335 |
Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: a mitochondrial DNA depletion disorder. |
causal interaction
ongoing research
unassigned |
4
2
0 |
