ATP6, ATP synthase F0 subunit 6, 4508

N. diseases: 226; N. variants: 80
Disease: Leigh Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556423547
rs1556423547
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
Leigh Disease 		C 0.700 CausalMutation CLINVAR Identification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome. 24118886 2013