|
rs199476138
|
|
Leigh Disease
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA.
|
17352390 |
2007 |
|
rs199476138
|
|
Leigh Disease
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.
|
9501263 |
1998 |
|
rs199476138
|
|
Leigh Disease
|
|
0.810 |
GeneticVariation
|
UNIPROT |
De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome.
|
9556461 |
1998 |
|
rs199476138
|
|
Leigh Disease
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA.
|
9270604 |
1997 |
|
rs199476138
|
|
Leigh Disease
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.
|
8395787 |
1993 |
|
rs199476109
|
|
Leigh Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.
|
14595656 |
2003 |
|
rs199476133
|
|
Leigh Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA.
|
17352390 |
2007 |
|
rs199476133
|
|
Leigh Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome.
|
9556461 |
1998 |
|
rs199476133
|
|
Leigh Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.
|
9501263 |
1998 |
|
rs199476133
|
|
Leigh Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA.
|
9270604 |
1997 |
|
rs199476133
|
|
Leigh Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.
|
8395787 |
1993 |
|
rs199476135
|
|
Leigh Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA.
|
17352390 |
2007 |
|
rs199476135
|
|
Leigh Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome.
|
9556461 |
1998 |
|
rs199476135
|
|
Leigh Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.
|
9501263 |
1998 |
|
rs199476135
|
|
Leigh Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA.
|
9270604 |
1997 |
|
rs199476135
|
|
Leigh Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.
|
8395787 |
1993 |
|
rs267606891
|
|
Leigh Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.
|
17152068 |
2007 |
|
rs267606893
|
|
Leigh Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.
|
17400793 |
2007 |
|
rs267606893
|
|
Leigh Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.
|
12796552 |
2003 |
|
rs267606893
|
|
Leigh Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Leigh disease associated with a novel mitochondrial DNA ND5 mutation.
|
11938446 |
2002 |
|
rs28939711
|
|
Leigh Disease
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency.
|
15863660 |
2005 |
|
rs28939711
|
|
Leigh Disease
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome.
|
15235026 |
2004 |
|
rs397514662
|
|
Leigh Disease
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency.
|
15863660 |
2005 |
|
rs397514662
|
|
Leigh Disease
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome.
|
15235026 |
2004 |
|
rs113994093
|
|
Leigh Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.
|
18828154 |
2009 |