rs267606890
|
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
|
20818383 |
2010 |
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 |
rs199476117
|
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
|
20818383 |
2010 |
rs199476117
|
|
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 |
rs199476133
|
|
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation.
|
16049925 |
2005 |
rs199476133
|
|
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation.
|
18055910 |
2007 |
rs794726857
|
|
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
rs199476133
|
|
Neuropathy ataxia and retinis pigmentosa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.
|
2137962 |
1990 |
rs199476112
|
|
Optic Atrophy, Hereditary, Leber
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Electron transfer properties of NADH:ubiquinone reductase in the ND13460 and the ND411778 mutations of the Leber hereditary optic neuroretinopathy (LHON).
|
1959619 |
1991 |
rs199476112
|
|
Optic Atrophy, Hereditary, Leber
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.
|
3201231 |
1988 |
rs199476112
|
|
Optic Atrophy, Hereditary, Leber
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Detection of the G to A mitochondrial DNA mutation at position 11778 in German families with Leber's hereditary optic neuropathy.
|
1959931 |
1991 |
rs199476112
|
|
Optic Atrophy, Hereditary, Leber
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations.
|
9452107 |
1998 |
rs200613617
|
|
Optic Atrophy, Hereditary, Leber
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
rs267606611
|
|
Optic Atrophy, Hereditary, Leber
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
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 |
rs193302933
|
|
Optic Atrophy, Hereditary, Leber
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
rs199476135
|
|
Striatonigral Degeneration, Infantile, Mitochondrial
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis.
|
7668837 |
1995 |