COX2, cytochrome c oxidase subunit II, 4513

N. diseases: 875; N. variants: 79
Disease: Leigh Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118192098
rs118192098
Entrez Id: 4508;4509;4513;4514;4537;4566
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3;TRNK
ATP6;ATP8;COX2;COX3;ND3;TRNK
CUI: C0023264
Disease:
Leigh Disease 		G 0.700 CausalMutation CLINVAR "Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA (""MERRF mutation"")." 8170567 1993
dbSNP: rs118192098
rs118192098
Entrez Id: 4508;4509;4513;4514;4537;4566
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3;TRNK
ATP6;ATP8;COX2;COX3;ND3;TRNK
CUI: C0023264
Disease:
Leigh Disease 		G 0.700 CausalMutation CLINVAR Clinical spectrum of mitochondrial DNA mutation at base pair 8344. 1678125 1991