EC Number   |
Disease |
PubMed ID |
Title of Publication  |
Category |
Confidence Level |
|---|
    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 |
27896121 |
A SUCLG1 mutation in a patient with mitochondrial DNA depletion and congenital anomalies. |
causal interaction
therapeutic application
unassigned |
4
1
0 |
| 6.2.1.4 | Paraganglioma |
34415349 |
Another Weak Link in the Electron Transport Chain: Variants in SUCLG2 and Risk for Pheochromocytoma and Paraganglioma. |
diagnostic usage
therapeutic application
unassigned |
2
1
0 |
| 6.2.1.4 | Pheochromocytoma |
34415349 |
Another Weak Link in the Electron Transport Chain: Variants in SUCLG2 and Risk for Pheochromocytoma and Paraganglioma. |
diagnostic usage
therapeutic application
unassigned |
2
1
0 |
| 6.2.1.4 | Endometriosis |
23284138 |
Changes in eutopic endometrial gene expression during the progression of experimental endometriosis in the baboon, papio anubis. |
causal interaction
ongoing research
unassigned |
1
2
0 |
| 6.2.1.4 | Mitochondrial Encephalomyopathies |
29217198 |
Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family. |
causal interaction
diagnostic usage
unassigned |
4
4
0 |
| 6.2.1.4 | Down Syndrome |
28749033 |
Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome. |
causal interaction
unassigned |
4
0 |
| 6.2.1.4 | Brain Diseases |
33484326 |
Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. |
causal interaction
unassigned |
4
0 |
| 6.2.1.4 | Cardiomyopathies |
33484326 |
Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. |
causal interaction
unassigned |
4
0 |
| 6.2.1.4 | Epilepsy |
33484326 |
Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. |
causal interaction
unassigned |
4
0 |
