ATP6, ATP synthase F0 subunit 6, 4508

N. diseases: 226; N. variants: 80
Disease: Optic Atrophy, Hereditary, Leber ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476134
rs199476134
Entrez Id: 4508;4514;4537;4538;4539
Gene Symbol: ATP6;COX3;ND3;ND4;ND4L
ATP6;COX3;ND3;ND4;ND4L
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.700 GeneticVariation UNIPROT A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy. 7726182 1995
dbSNP: rs267606611
rs267606611
Entrez Id: 4508;4514;4537;4538;4539
Gene Symbol: ATP6;COX3;ND3;ND4;ND4L
ATP6;COX3;ND3;ND4;ND4L
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.700 GeneticVariation UNIPROT
dbSNP: rs201336180
rs201336180
Entrez Id: 4508;4509;4513;4514;4537;4539
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3;ND4L
ATP6;ATP8;COX2;COX3;ND3;ND4L
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.010 GeneticVariation BEFREE Analyses of the complete mtDNA sequences from LHON families with m.11778G-->A narrow the association of disease expression to m.12811T-->C (Y159H) in the NADH dehydrogenase 5 gene (MT-ND5) in haplogroup M7b1'2 and suggest that the specific combination of amino acid changes (A20T-T53I) in the ATP synthase 6 protein (MT-ATP6) caused by m.8584G-->A and m.8684C-->T might account for the beneficial background effect of M8a. 19026397 2008