rs199476135
|
|
Leigh Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.
|
8395787 |
1993 |
rs200613617
|
|
Optic Atrophy, Hereditary, Leber
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
rs267606884
|
|
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A mitochondrial DNA mutation linked to colon cancer results in proton leaks in cytochrome c oxidase.
|
19218458 |
2009 |
rs267606884
|
|
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission.
|
16407113 |
2006 |
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 |
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 |
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 |
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
|
20818383 |
2010 |
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 |
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 |
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 |
rs387906422
|
|
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes.
|
19188198 |
2009 |
rs794726857
|
|
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3
|
|
0.800 |
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 |
rs267606611
|
|
Optic Atrophy, Hereditary, Leber
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|