|
rs199474826
|
ATP6;ATP8;COX2;COX3
|
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs199474827
|
ATP6;ATP8;COX1;COX2;COX3
|
Cytochrome-c Oxidase Deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy.
|
10486321 |
1999 |
|
rs199476133
|
ATP6;ATP8;COX3;ND3;ND4;ND4L
|
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
|
ATP6;ATP8;COX3;ND3;ND4;ND4L
|
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
|
ATP6;ATP8;COX3;ND3;ND4;ND4L
|
Leigh Disease
|
|
0.800 |
GeneticVariation |
UNIPROT |
Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA.
|
9270604 |
1997 |
|
rs199476133
|
ATP6;ATP8;COX3;ND3;ND4;ND4L
|
ATAXIA AND POLYNEUROPATHY, ADULT-ONSET
|
|
0.800 |
GeneticVariation |
UNIPROT |
Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation.
|
18055910 |
2007 |
|
rs199476133
|
ATP6;ATP8;COX3;ND3;ND4;ND4L
|
Leigh Disease
|
|
0.800 |
GeneticVariation |
UNIPROT |
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.
|
8395787 |
1993 |
|
rs199476133
|
ATP6;ATP8;COX3;ND3;ND4;ND4L
|
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 |
|
rs199476133
|
ATP6;ATP8;COX3;ND3;ND4;ND4L
|
Neuropathy ataxia and retinis pigmentosa
|
|
0.800 |
GeneticVariation |
UNIPROT |
A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.
|
2137962 |
1990 |
|
rs199476133
|
ATP6;ATP8;COX3;ND3;ND4;ND4L
|
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
|
ATP6;ATP8;COX3;ND3;ND4;ND4L
|
Leigh Disease
|
|
0.800 |
GeneticVariation |
UNIPROT |
De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome.
|
9556461 |
1998 |
|
rs199476133
|
ATP6;ATP8;COX3;ND3;ND4;ND4L
|
ATAXIA AND POLYNEUROPATHY, ADULT-ONSET
|
|
0.800 |
GeneticVariation |
UNIPROT |
Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation.
|
16049925 |
2005 |
|
rs267606884
|
ATP6;ATP8;COX1;COX2;COX3
|
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 |
|
rs267606884
|
ATP6;ATP8;COX1;COX2;COX3
|
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation |
UNIPROT |
A mitochondrial DNA mutation linked to colon cancer results in proton leaks in cytochrome c oxidase.
|
19218458 |
2009 |
|
rs387906422
|
ATP6;ATP8;COX2;COX3;ND3;ND4L
|
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
|
ATP6;ATP8;COX3;ND3;ND4;ND4L
|
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs28461189
|
ATP8;COX1;COX2
|
Cytochrome-c Oxidase Deficiency
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs199476128
|
ATP8;COX1;COX2
|
Glaucoma, Primary Open Angle
|
|
0.010 |
GeneticVariation |
BEFREE |
However, the POAG case population was found to be enriched in L1c2 haplogroups, which are defined in part by missense mutations m.6150G>A (Val83Ile, odds ratio [OR] 1.8, p=0.01), m.6253C>T (Met117Thr, rs200165736, OR 1.6, p=0.04), and m.6480G>A (Val193Ile, rs199476128, OR 4.6, p=0.04) in the cytochrome c oxidase subunit 1 (MT-CO1) gene and by a variant, m.2220A>G (OR 2.0, p=0.01), in MT-RNR2, which encodes the mitochondrial ribosomal 16s RNA gene.
|
27217714 |
2016 |
|
rs199476133
|
ATP6;ATP8;COX3;ND3;ND4;ND4L
|
Osteosarcoma
|
|
0.010 |
GeneticVariation |
BEFREE |
In order to identify genes whose expression is altered as a result of the presence of mtDNA mutations, DNA microarray analysis was performed using human 143B osteosarcoma cells harboring 3243A>G [tRNA-Leu (UUR)] and 8993T>G [ATPase6 Leu156Arg] mtDNA mutations associated with MELAS and NARP syndromes (2SD and NARP3-1 cybrid cells), respectively.
|
17276738 |
2007 |
|
rs199476133
|
ATP6;ATP8;COX3;ND3;ND4;ND4L
|
MELAS Syndrome
|
|
0.010 |
GeneticVariation |
BEFREE |
In order to identify genes whose expression is altered as a result of the presence of mtDNA mutations, DNA microarray analysis was performed using human 143B osteosarcoma cells harboring 3243A>G [tRNA-Leu (UUR)] and 8993T>G [ATPase6 Leu156Arg] mtDNA mutations associated with MELAS and NARP syndromes (2SD and NARP3-1 cybrid cells), respectively.
|
17276738 |
2007 |
|
rs199476133
|
ATP6;ATP8;COX3;ND3;ND4;ND4L
|
Osteosarcoma of bone
|
|
0.010 |
GeneticVariation |
BEFREE |
In order to identify genes whose expression is altered as a result of the presence of mtDNA mutations, DNA microarray analysis was performed using human 143B osteosarcoma cells harboring 3243A>G [tRNA-Leu (UUR)] and 8993T>G [ATPase6 Leu156Arg] mtDNA mutations associated with MELAS and NARP syndromes (2SD and NARP3-1 cybrid cells), respectively.
|
17276738 |
2007 |
|
rs199476133
|
ATP6;ATP8;COX3;ND3;ND4;ND4L
|
Childhood Osteosarcoma
|
|
0.010 |
GeneticVariation |
BEFREE |
In order to identify genes whose expression is altered as a result of the presence of mtDNA mutations, DNA microarray analysis was performed using human 143B osteosarcoma cells harboring 3243A>G [tRNA-Leu (UUR)] and 8993T>G [ATPase6 Leu156Arg] mtDNA mutations associated with MELAS and NARP syndromes (2SD and NARP3-1 cybrid cells), respectively.
|
17276738 |
2007 |
|
rs201336180
|
ATP6;ATP8;COX2;COX3;ND3;ND4L
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.010 |
GeneticVariation |
BEFREE |
A mtSNP, 8684C > T (T53I) in the mitochondrial ATP synthase subunit 6 gene (ATP6), was detected in 5 of the 96 patients with type-2 diabetes, whereas this substitution was not detected in any of the 96 young obese adults.
|
16060290 |
2005 |
|
rs201336180
|
ATP6;ATP8;COX2;COX3;ND3;ND4L
|
Optic Atrophy, Hereditary, Leber
|
|
0.010 |
GeneticVariation |
BEFREE |
Analyses of the complete mtDNA sequences from LHON families with m.11778G-->A narrow the association of disease expression to m.12811T-->C (Y159H) in the NADH dehydrogenase 5 gene (MT-ND5) in haplogroup M7b1'2 and suggest that the specific combination of amino acid changes (A20T-T53I) in the ATP synthase 6 protein (MT-ATP6) caused by m.8584G-->A and m.8684C-->T might account for the beneficial background effect of M8a.
|
19026397 |
2008 |
|
rs28358887
|
ATP6;ATP8;COX3;ND3;ND4;ND4L
|
Obesity
|
|
0.010 |
GeneticVariation |
BEFREE |
For discovery, nominal association with obesity was found for the frequent allele G of m.8994G/A (rs28358887, p = 0.002) located in ATP6.
|
24788344 |
2014 |