COX2, cytochrome c oxidase subunit II, 4513

N. diseases: 875; N. variants: 79
Disease: Cytochrome-c Oxidase Deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199474827
rs199474827
Entrez Id: 4508;4509;4512;4513;4514
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3
ATP6;ATP8;COX1;COX2;COX3
CUI: C0268237
Disease:
Cytochrome-c Oxidase Deficiency 		0.800 GeneticVariation UNIPROT A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy. 10486321 1999
dbSNP: rs199474827
rs199474827
Entrez Id: 4508;4509;4512;4513;4514
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3
ATP6;ATP8;COX1;COX2;COX3
CUI: C0268237
Disease:
Cytochrome-c Oxidase Deficiency 		A 0.800 CausalMutation CLINVAR