Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476138
rs199476138
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.810 GeneticVariation UNIPROT Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA. 17352390

2007

dbSNP: rs199476138
rs199476138
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
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

dbSNP: rs199476138
rs199476138
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.810 GeneticVariation UNIPROT De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome. 9556461

1998

dbSNP: rs199476138
rs199476138
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.810 GeneticVariation UNIPROT Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA. 9270604

1997

dbSNP: rs199476138
rs199476138
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.810 GeneticVariation UNIPROT A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. 8395787

1993

dbSNP: rs199476117
rs199476117
COX3 ; ND3 ; ND4 ; ND4L
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

dbSNP: rs199476117
rs199476117
COX3 ; ND3 ; ND4 ; ND4L
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

dbSNP: rs199476117
rs199476117
COX3 ; ND3 ; ND4 ; ND4L
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

dbSNP: rs199476133
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

dbSNP: rs199476133
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

dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
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

dbSNP: rs199476133
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

dbSNP: rs199476133
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

dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.800 GeneticVariation UNIPROT De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome. 9556461

1998

dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
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

dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.800 GeneticVariation UNIPROT Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA. 9270604

1997

dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.800 GeneticVariation UNIPROT A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. 8395787

1993

dbSNP: rs199476133
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

dbSNP: rs199476135
rs199476135
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
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

dbSNP: rs199476135
rs199476135
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.800 GeneticVariation UNIPROT De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome. 9556461

1998

dbSNP: rs199476135
rs199476135
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
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

dbSNP: rs199476135
rs199476135
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.800 GeneticVariation UNIPROT Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA. 9270604

1997

dbSNP: rs199476135
rs199476135
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
Striatonigral Degeneration, Infantile, Mitochondrial
0.800 GeneticVariation UNIPROT A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. 7668837

1995

dbSNP: rs199476135
rs199476135
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.800 GeneticVariation UNIPROT A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. 8395787

1993

dbSNP: rs200613617
rs200613617
COX3 ; ND3 ; ND4 ; ND4L
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
0.800 GeneticVariation UNIPROT