Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587776513
rs587776513
Entrez Id: 51204
Gene Symbol: TACO1
TACO1
CUI: C0268237
Disease:
Cytochrome-c Oxidase Deficiency
GC 0.700 GeneticVariation CLINVAR Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. 19503089 2009
dbSNP: rs587776513
rs587776513
Entrez Id: 51204
Gene Symbol: TACO1
TACO1
CUI: C0268237
Disease:
Cytochrome-c Oxidase Deficiency
GC 0.700 CausalMutation CLINVAR