rs794726857
|
|
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
rs200613617
|
|
Optic Atrophy, Hereditary, Leber
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
rs199474826
|
|
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
rs267606611
|
|
Optic Atrophy, Hereditary, Leber
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
rs199476133
|
|
Neuropathy ataxia and retinis pigmentosa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.
|
2137962 |
1990 |
rs199476138
|
|
Leigh Disease
|
|
0.810 |
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 |
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.
|
8395787 |
1993 |
rs199476133
|
|
Leigh Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.
|
8395787 |
1993 |
rs199476135
|
|
Striatonigral Degeneration, Infantile, Mitochondrial
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis.
|
7668837 |
1995 |
rs199476134
|
|
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 |
rs199476138
|
|
Leigh Disease
|
|
0.810 |
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 |
Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA.
|
9270604 |
1997 |
rs199476133
|
|
Leigh Disease
|
|
0.800 |
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 |
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 |
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 |
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 |
rs199474827
|
|
Cytochrome-c Oxidase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy.
|
10486321 |
1999 |
rs267606891
|
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.
|
11456298 |
2001 |
rs267606890
|
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.
|
11456298 |
2001 |
rs199476117
|
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.
|
11456298 |
2001 |
rs267606891
|
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.
|
14705112 |
2004 |
rs267606890
|
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.
|
14705112 |
2004 |