EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   1.17.99.9 | Brain Diseases |
32232962 |
Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome. |
causal interaction
diagnostic usage
unassigned |
4
3
0 |
| 1.17.99.9 | Cardiomyopathies |
15863660 |
Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency. |
causal interaction
diagnostic usage
ongoing research
unassigned |
4
3
2
0 |
| 1.17.99.9 | Cardiomyopathy, Hypertrophic |
12474143 |
Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. |
causal interaction
diagnostic usage
ongoing research
therapeutic application |
4
3
3
1 |
| 1.17.99.9 | Cardiomyopathy, Hypertrophic |
12928484 |
Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency. |
causal interaction
diagnostic usage
ongoing research
therapeutic application |
4
2
2
1 |
| 1.17.99.9 | Cardiomyopathy, Hypertrophic |
26940873 |
Analysis of Oligomerization Properties of Heme a Synthase Provides Insights into its Function in Eukaryotes. |
causal interaction
unassigned |
1
0 |
| 1.17.99.9 | Cardiomyopathy, Hypertrophic |
26959537 |
Leigh syndrome associated with a novel mutation in the COX15 gene. |
causal interaction
unassigned |
4
0 |
| 1.17.99.9 | cytochrome-c oxidase deficiency |
12474143 |
Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. |
causal interaction
causal interaction
diagnostic usage
diagnostic usage
ongoing research
ongoing research
therapeutic application
therapeutic application |
4
4
3
3
3
3
1
1 |
| 1.17.99.9 | cytochrome-c oxidase deficiency |
15576047 |
Defects in the biosynthesis of mitochondrial heme c and heme a in yeast and mammals. |
causal interaction
causal interaction
unassigned
unassigned |
4
4
0
0 |
| 1.17.99.9 | cytochrome-c oxidase deficiency |
15863660 |
Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency. |
causal interaction
causal interaction
diagnostic usage
diagnostic usage
ongoing research
ongoing research
unassigned
unassigned |
4
4
3
3
2
2
0
0 |
| 1.17.99.9 | Leigh Disease |
12928484 |
Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency. |
causal interaction
diagnostic usage
ongoing research
therapeutic application |
4
2
2
1 |
