rs80358232
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
rs74315511
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies.
|
25959673 |
2015 |
rs74315511
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.
|
19336478 |
2009 |
rs74315511
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.
|
10749987 |
2000 |
rs74315511
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.
|
10545952 |
1999 |
rs74315511
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy.
|
19353847 |
2009 |
rs74315511
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy.
|
11673586 |
2001 |
rs74315511
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype.
|
14994243 |
2004 |
rs74315511
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis.
|
17189203 |
2007 |
rs28937868
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
rs28937598
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis.
|
17189203 |
2007 |
rs28937598
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype.
|
14994243 |
2004 |
rs28937598
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy.
|
19353847 |
2009 |
rs28937598
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy.
|
11673586 |
2001 |
rs28937598
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies.
|
25959673 |
2015 |
rs28937598
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.
|
10749987 |
2000 |
rs28937598
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.
|
10545952 |
1999 |
rs28937598
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.
|
19336478 |
2009 |
rs759452074
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.
|
10545952 |
1999 |
rs759452074
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy.
|
19353847 |
2009 |
rs759452074
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.
|
10749987 |
2000 |
rs759452074
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype.
|
14994243 |
2004 |
rs759452074
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis.
|
17189203 |
2007 |
rs759452074
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies.
|
25959673 |
2015 |
rs759452074
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.
|
19336478 |
2009 |