EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    6.2.1.5 | Acidosis, Lactic |
17301081 |
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. |
causal interaction
diagnostic usage
unassigned |
4
2
0 |
| 6.2.1.5 | Acidosis, Lactic |
21639866 |
Neonatal lactic acidosis with methylmalonic aciduria by novel mutations in the SUCLG1 gene. |
causal interaction
unassigned |
4
0 |
| 6.2.1.5 | Acidosis, Lactic |
27913098 |
Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion. |
diagnostic usage
unassigned |
2
0 |
| 6.2.1.5 | 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 |
| 6.2.1.5 | Cardiomyopathy, Hypertrophic |
26475597 |
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients. |
causal interaction
diagnostic usage
therapeutic application
unassigned |
4
1
1
0 |
| 6.2.1.5 | Crohn Disease |
26863601 |
Influences of XDH genotype by gene-gene interactions with SUCLA2 for thiopurine-induced leukopenia in Korean patients with Crohn's disease. |
causal interaction
diagnostic usage
ongoing research
therapeutic application |
2
2
3
1 |
| 6.2.1.5 | Deafness |
17301081 |
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. |
causal interaction
diagnostic usage
unassigned |
4
2
0 |
| 6.2.1.5 | Deafness |
18392745 |
Disorders caused by deficiency of succinate-CoA ligase. |
causal interaction
unassigned |
4
0 |
| 6.2.1.5 | Deafness |
19015156 |
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. |
causal interaction
unassigned |
4
0 |
| 6.2.1.5 | Deafness |
19666145 |
Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children. |
causal interaction
diagnostic usage
unassigned |
4
2
0 |
