rs267606891
|
|
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 |
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 |
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 |
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 |
rs200613617
|
|
Optic Atrophy, Hereditary, Leber
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
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 |
rs267606892
|
|
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
rs193302933
|
|
Optic Atrophy, Hereditary, Leber
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
rs199476113
|
|
MELAS Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I.
|
1323207 |
1992 |
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 |
rs200873900
|
|
LEBER OPTIC ATROPHY AND DYSTONIA
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.
|
8644732 |
1996 |