|
| Entrez Id: |
9997 |
| Gene Symbol: |
SCO2 |
SCO2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
| Entrez Id: |
9997 |
| Gene Symbol: |
SCO2 |
SCO2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.
|
25655951 |
2015 |
|
| Entrez Id: |
9997 |
| Gene Symbol: |
SCO2 |
SCO2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies.
|
25959673 |
2015 |
|
| Entrez Id: |
9997 |
| Gene Symbol: |
SCO2 |
SCO2
|
0.700 |
Biomarker
|
disease |
CTD_human |
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations.
|
22515166 |
2012 |
|
| Entrez Id: |
9997 |
| Gene Symbol: |
SCO2 |
SCO2
|
0.700 |
Biomarker
|
disease |
CTD_human |
Unexpected vascular enrichment of SCO1 over SCO2 in mammalian tissues: implications for human mitochondrial disease.
|
20864674 |
2010 |
|
| Entrez Id: |
9997 |
| Gene Symbol: |
SCO2 |
SCO2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.
|
19336478 |
2009 |
|
| Entrez Id: |
9997 |
| Gene Symbol: |
SCO2 |
SCO2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy.
|
19353847 |
2009 |
|
| Entrez Id: |
9997 |
| Gene Symbol: |
SCO2 |
SCO2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis.
|
17189203 |
2007 |
|
| Entrez Id: |
9997 |
| Gene Symbol: |
SCO2 |
SCO2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality.
|
15210538 |
2004 |
|
| Entrez Id: |
9997 |
| Gene Symbol: |
SCO2 |
SCO2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype.
|
14994243 |
2004 |
|
| Entrez Id: |
9997 |
| Gene Symbol: |
SCO2 |
SCO2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype.
|
14994243 |
2004 |
|
| Entrez Id: |
9997 |
| Gene Symbol: |
SCO2 |
SCO2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy.
|
11673586 |
2001 |
|
| Entrez Id: |
9997 |
| Gene Symbol: |
SCO2 |
SCO2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.
|
10749987 |
2000 |
|
| Entrez Id: |
9997 |
| Gene Symbol: |
SCO2 |
SCO2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.
|
10545952 |
1999 |
|
| Entrez Id: |
9997 |
| Gene Symbol: |
SCO2 |
SCO2
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.
|
10545952 |
1999 |
|
| Entrez Id: |
9997 |
| Gene Symbol: |
SCO2 |
SCO2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
| Entrez Id: |
9997 |
| Gene Symbol: |
SCO2 |
SCO2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
388753 |
| Gene Symbol: |
COA6 |
COA6
|
0.600 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy.
|
25339201 |
2015 |
|
| Entrez Id: |
388753 |
| Gene Symbol: |
COA6 |
COA6
|
0.600 |
GermlineCausalMutation
|
disease |
ORPHANET |
Copper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiency.
|
24549041 |
2014 |
|
| Entrez Id: |
388753 |
| Gene Symbol: |
COA6 |
COA6
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
| Entrez Id: |
388753 |
| Gene Symbol: |
COA6 |
COA6
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
1355 |
| Gene Symbol: |
COX15 |
COX15
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
Infantile cardioencephalopathy due to a COX15 gene defect: report and review.
|
21412973 |
2011 |
|
| Entrez Id: |
493753 |
| Gene Symbol: |
COA5 |
COA5
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy.
|
21457908 |
2011 |
|
| Entrez Id: |
1355 |
| Gene Symbol: |
COX15 |
COX15
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
Isoforms of mammalian cytochrome c oxidase: correlation with human cytochrome c oxidase deficiency.
|
2175025 |
1990 |
|
| Entrez Id: |
1355 |
| Gene Symbol: |
COX15 |
COX15
|
0.500 |
Biomarker
|
disease |
CTD_human |
|
|
|