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: rs199476136
rs199476136
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 GeneticVariation CLINVAR Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene. 23206802 2013
dbSNP: rs199476136
rs199476136
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 GeneticVariation CLINVAR Defining the pathogenesis of human mtDNA mutations using a yeast model: the case of T8851C. 22789932 2013
dbSNP: rs199476136
rs199476136
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 GeneticVariation CLINVAR mtDNA lineage expansions in Sherpa population suggest adaptive evolution in Tibetan highlands. 24002810 2013
dbSNP: rs199476136
rs199476136
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 GeneticVariation CLINVAR Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene. 8554662 1995
dbSNP: rs199476136
rs199476136
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 Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene. 8554662 1995