MYOPIA 6 (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
MYOPIA 6 (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies.
|
25959673 |
2015 |
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.
|
25655951 |
2015 |
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies.
|
25959673 |
2015 |
MYOPIA 6 (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing.
|
25525168 |
2014 |
MYOPIA 6 (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in SCO2 are associated with autosomal-dominant high-grade myopia.
|
23643385 |
2013 |
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
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 |
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
0.700 |
Biomarker
|
disease |
CTD_human |
Unexpected vascular enrichment of SCO1 over SCO2 in mammalian tissues: implications for human mitochondrial disease.
|
20864674 |
2010 |
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
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 |
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy.
|
19353847 |
2009 |
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
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 |
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality.
|
15210538 |
2004 |
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype.
|
14994243 |
2004 |
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype.
|
14994243 |
2004 |
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy.
|
11673586 |
2001 |
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.
|
10749987 |
2000 |
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.
|
10545952 |
1999 |
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.
|
10545952 |
1999 |
MYOPIA 6 (disorder)
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
MYOPIA 6 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
MYOPIA 6 (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Cytochrome-c Oxidase Deficiency
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In particular, non-random occurrence was revealed for SERPINA1 c.1096G > A (alpha-1 antitrypsin deficiency), C8B c.1282C > T and c.1653G > A (complement component 8B deficiency), ATP7B c.3207C > A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G > T (non-classical form of adrenogenital syndrome), EYS c.1155T > A (retinitis pigmentosa), HADHA c.1528G > C (LCHAD deficiency), SCO2 c.418G > A (cytochrome c oxidase deficiency), OTOA c.2359G > T (sensorineural deafness), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T > C (VLCAD deficiency), TGM5 c.337G > T (acral peeling skin syndrome) and VWF c.2561 G > A (von Willebrand disease, type 2N).
|
31028847 |
2019 |