COX3, cytochrome c oxidase III, 4514

N. diseases: 195; N. variants: 75
Disease: MELAS Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199474818
rs199474818
Entrez Id: 4508;4509;4512;4513;4514
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3
ATP6;ATP8;COX1;COX2;COX3
CUI: C0162671
Disease:
MELAS Syndrome 		G 0.700 CausalMutation CLINVAR A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. 8019558 1994