EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   2.5.1.141 | Acidosis |
30588737 |
Sideroblastic anemia associated with multisystem mitochondrial disorders. |
causal interaction
therapeutic application
unassigned |
1
1
0 |
| 2.5.1.141 | Acidosis, Renal Tubular |
30588737 |
Sideroblastic anemia associated with multisystem mitochondrial disorders. |
causal interaction
therapeutic application
unassigned |
1
1
0 |
| 2.5.1.141 | Anemia |
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 |
| 2.5.1.141 | Anemia |
30588737 |
Sideroblastic anemia associated with multisystem mitochondrial disorders. |
causal interaction
therapeutic application
unassigned |
1
1
0 |
| 2.5.1.141 | Anemia, Sideroblastic |
31393068 |
Comment on: Sideroblastic anemia associated with multisystem mitochondrial disorders: The phenotypic spectrum of PUS1 and COX10 variants and mtDNA deletions needs to be prospectively assessed. |
unassigned |
0 |
| 2.5.1.141 | Azoospermia |
19694371 |
[Expression of COX10 in human non-obstructive azoospermia testes] |
causal interaction
diagnostic usage
ongoing research
unassigned |
4
4
4
0 |
| 2.5.1.141 | Cardiomyopathies |
30642647 |
Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background. |
therapeutic application
unassigned |
1
0 |
| 2.5.1.141 | 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 |
| 2.5.1.141 | Cardiomyopathy, Hypertrophic |
30588737 |
Sideroblastic anemia associated with multisystem mitochondrial disorders. |
causal interaction
therapeutic application
unassigned |
1
1
0 |
| 2.5.1.141 | Coma |
11013136 |
Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. |
causal interaction
unassigned |
3
0 |
