Source: ALL
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GeneticVariation | UNIPROT | Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies. | 25959673 | 2015 |
||||
|
0.700 | GeneticVariation | UNIPROT | A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy. | 19353847 | 2009 |
||||
|
0.700 | GeneticVariation | UNIPROT | Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1. | 19336478 | 2009 |
||||
|
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 |
||||
|
0.700 | GeneticVariation | UNIPROT | Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype. | 14994243 | 2004 |
||||
|
0.700 | GeneticVariation | UNIPROT | Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. | 11673586 | 2001 |
||||
|
0.700 | GeneticVariation | UNIPROT | Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency. | 10749987 | 2000 |
||||
|
0.700 | GeneticVariation | UNIPROT | Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. | 10545952 | 1999 |