EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    2.5.1.39 | Cardiomyopathy, Hypertrophic |
23816342 |
Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2). |
causal interaction
unassigned |
4
0 |
| 2.5.1.39 | Epilepsies, Myoclonic |
23816342 |
Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2). |
causal interaction
unassigned |
4
0 |
| 2.5.1.39 | Multiple System Atrophy |
26096180 |
Mutation Analysis of COQ2 in Chinese Patients with Cerebellar Subtype of Multiple System Atrophy. |
causal interaction
unassigned |
4
0 |
| 2.5.1.39 | Multiple System Atrophy |
27123473 |
New susceptible variant of COQ2 gene in Japanese patients with sporadic multiple system atrophy. |
diagnostic usage
ongoing research
unassigned |
1
4
0 |
| 2.5.1.39 | Multiple System Atrophy |
31398377 |
Genetic mutation analysis of the COQ2 gene in Italian patients with multiple system atrophy. |
causal interaction
unassigned |
4
0 |
| 2.5.1.39 | Nephrotic Syndrome |
23816342 |
Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2). |
causal interaction
unassigned |
4
0 |
