rs80358232
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
rs28937868
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
rs8139305
|
|
MYOPIA 6 (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
rs375954523
|
|
MYOPIA 6 (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
rs145100473
|
|
MYOPIA 6 (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
rs759452074
|
|
Leigh Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
|
26741492 |
2016 |
rs1352878283
|
|
Leigh Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
|
26741492 |
2016 |
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 |
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 |
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 |
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
|
|
MYOPIA 6 (disorder)
|
|
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 |
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 |
Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies.
|
25959673 |
2015 |
rs370130010
|
|
MYOPIA 6 (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies.
|
25959673 |
2015 |
rs74315511
|
|
MYOPIA 6 (disorder)
|
|
0.800 |
GeneticVariation
|
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 |
rs370130010
|
|
MYOPIA 6 (disorder)
|
|
0.700 |
GeneticVariation
|
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 |
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 |
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 |
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 |
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 |
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 |
rs759452074
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
|
0.700 |
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 |
Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.
|
19336478 |
2009 |
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 |